SNP Links for Protein (Select 166795305) - SNP

Links from Protein

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Select item 14891532851.

rs1489153285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002638 (GRCh38)
6:153323773 (GRCh37)
Canonical SPDI:: NC_000006.12:153002637:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.153002638G>A, NC_000006.11:g.153323773G>A, NM_019041.7:c.48C>T, NM_019041.6:c.48C>T, NM_019041.5:c.48C>T, NM_001114184.3:c.48C>T, NM_001114184.2:c.48C>T, NM_001114184.1:c.48C>T, NM_001301047.3:c.48C>T, NM_001301047.2:c.48C>T, NM_001301047.1:c.48C>T, NM_001301871.2:c.-354C>T, NM_001301871.1:c.-354C>T, NM_001301870.2:c.48C>T, NM_001301870.1:c.48C>T, NR_126056.2:n.72C>T, NR_126056.1:n.178C>T, NM_001301872.2:c.48C>T, NM_001301872.1:c.48C>T, XM_047418905.1:c.48C>T

Select item 14874829082.

rs1487482908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:152994614 (GRCh38)
6:153315749 (GRCh37)
Canonical SPDI:: NC_000006.12:152994613:C:G
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.152994614C>G, NC_000006.11:g.153315749C>G, NM_019041.7:c.586G>C, NM_019041.6:c.586G>C, NM_019041.5:c.586G>C, NM_001114184.3:c.586G>C, NM_001114184.2:c.586G>C, NM_001114184.1:c.586G>C, NM_001301047.3:c.478G>C, NM_001301047.2:c.478G>C, NM_001301047.1:c.478G>C, NM_001301871.2:c.160G>C, NM_001301871.1:c.160G>C, NM_001301870.2:c.478G>C, NM_001301870.1:c.478G>C, NR_126056.2:n.585G>C, NR_126056.1:n.691G>C, XM_047418906.1:c.160G>C, XM_047418907.1:c.160G>C, XM_047418905.1:c.586G>C, NP_061914.3:p.Glu196Gln, NP_001107656.1:p.Glu196Gln, NP_001287976.1:p.Glu160Gln, NP_001288800.1:p.Glu54Gln, NP_001288799.1:p.Glu160Gln, XP_047274862.1:p.Glu54Gln, XP_047274863.1:p.Glu54Gln, XP_047274861.1:p.Glu196Gln

Select item 14871954463.

rs1487195446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152994535 (GRCh38)
6:153315670 (GRCh37)
Canonical SPDI:: NC_000006.12:152994534:G:C
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152994535G>C, NC_000006.11:g.153315670G>C, NM_019041.7:c.665C>G, NM_019041.6:c.665C>G, NM_019041.5:c.665C>G, NM_001114184.3:c.665C>G, NM_001114184.2:c.665C>G, NM_001114184.1:c.665C>G, NM_001301047.3:c.557C>G, NM_001301047.2:c.557C>G, NM_001301047.1:c.557C>G, NM_001301871.2:c.239C>G, NM_001301871.1:c.239C>G, NM_001301870.2:c.557C>G, NM_001301870.1:c.557C>G, NR_126056.2:n.664C>G, NR_126056.1:n.770C>G, XM_047418906.1:c.239C>G, XM_047418907.1:c.239C>G, XM_047418905.1:c.665C>G, NP_061914.3:p.Ala222Gly, NP_001107656.1:p.Ala222Gly, NP_001287976.1:p.Ala186Gly, NP_001288800.1:p.Ala80Gly, NP_001288799.1:p.Ala186Gly, XP_047274862.1:p.Ala80Gly, XP_047274863.1:p.Ala80Gly, XP_047274861.1:p.Ala222Gly

Select item 14830448474.

rs1483044847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:153002428 (GRCh38)
6:153323563 (GRCh37)
Canonical SPDI:: NC_000006.12:153002427:G:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.153002428G>T, NC_000006.11:g.153323563G>T, NM_019041.7:c.258C>A, NM_019041.6:c.258C>A, NM_019041.5:c.258C>A, NM_001114184.3:c.258C>A, NM_001114184.2:c.258C>A, NM_001114184.1:c.258C>A, NM_001301047.3:c.258C>A, NM_001301047.2:c.258C>A, NM_001301047.1:c.258C>A, NM_001301871.2:c.-144C>A, NM_001301871.1:c.-144C>A, NM_001301870.2:c.258C>A, NM_001301870.1:c.258C>A, NR_126056.2:n.282C>A, NR_126056.1:n.388C>A, NM_001301872.2:c.258C>A, NM_001301872.1:c.258C>A, XM_047418905.1:c.258C>A, NP_061914.3:p.His86Gln, NP_001107656.1:p.His86Gln, NP_001287976.1:p.His86Gln, NP_001288799.1:p.His86Gln, NP_001288801.1:p.His86Gln, XP_047274861.1:p.His86Gln

Select item 14769359655.

rs1476935965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002520 (GRCh38)
6:153323655 (GRCh37)
Canonical SPDI:: NC_000006.12:153002519:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.153002520G>A, NC_000006.11:g.153323655G>A, NM_019041.7:c.166C>T, NM_019041.6:c.166C>T, NM_019041.5:c.166C>T, NM_001114184.3:c.166C>T, NM_001114184.2:c.166C>T, NM_001114184.1:c.166C>T, NM_001301047.3:c.166C>T, NM_001301047.2:c.166C>T, NM_001301047.1:c.166C>T, NM_001301871.2:c.-236C>T, NM_001301871.1:c.-236C>T, NM_001301870.2:c.166C>T, NM_001301870.1:c.166C>T, NR_126056.2:n.190C>T, NR_126056.1:n.296C>T, NM_001301872.2:c.166C>T, NM_001301872.1:c.166C>T, XM_047418905.1:c.166C>T, NP_061914.3:p.His56Tyr, NP_001107656.1:p.His56Tyr, NP_001287976.1:p.His56Tyr, NP_001288799.1:p.His56Tyr, NP_001288801.1:p.His56Tyr, XP_047274861.1:p.His56Tyr

Select item 14754931266.

rs1475493126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152995171 (GRCh38)
6:153316306 (GRCh37)
Canonical SPDI:: NC_000006.12:152995170:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152995171T>C, NC_000006.11:g.153316306T>C, NM_019041.7:c.488A>G, NM_019041.6:c.488A>G, NM_019041.5:c.488A>G, NM_001114184.3:c.488A>G, NM_001114184.2:c.488A>G, NM_001114184.1:c.488A>G, NM_001301871.2:c.62A>G, NM_001301871.1:c.62A>G, NR_126056.2:n.487A>G, NR_126056.1:n.593A>G, XM_047418906.1:c.62A>G, XM_047418907.1:c.62A>G, XM_047418905.1:c.488A>G, NP_061914.3:p.His163Arg, NP_001107656.1:p.His163Arg, NP_001288800.1:p.His21Arg, XP_047274862.1:p.His21Arg, XP_047274863.1:p.His21Arg, XP_047274861.1:p.His163Arg

Select item 14690726397.

rs1469072639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152998563 (GRCh38)
6:153319698 (GRCh37)
Canonical SPDI:: NC_000006.12:152998562:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.152998563T>C, NC_000006.11:g.153319698T>C, NM_019041.7:c.326A>G, NM_019041.6:c.326A>G, NM_019041.5:c.326A>G, NM_001114184.3:c.326A>G, NM_001114184.2:c.326A>G, NM_001114184.1:c.326A>G, NM_001301047.3:c.326A>G, NM_001301047.2:c.326A>G, NM_001301047.1:c.326A>G, NM_001301871.2:c.-76A>G, NM_001301871.1:c.-76A>G, NM_001301870.2:c.326A>G, NM_001301870.1:c.326A>G, NR_126056.2:n.350A>G, NR_126056.1:n.456A>G, NM_001301872.2:c.326A>G, NM_001301872.1:c.326A>G, XM_047418907.1:c.-76A>G, XM_047418905.1:c.326A>G, NP_061914.3:p.Gln109Arg, NP_001107656.1:p.Gln109Arg, NP_001287976.1:p.Gln109Arg, NP_001288799.1:p.Gln109Arg, NP_001288801.1:p.Gln109Arg, XP_047274861.1:p.Gln109Arg

Select item 14651716738.

rs1465171673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGGAGCTCAGGGGCCGGCGGGCT>- [Show Flanks]
Chromosome:: 6:153002599 (GRCh38)
6:153323734 (GRCh37)
Canonical SPDI:: NC_000006.12:153002589:CGGCGGGCTACCGGAGCTCAGGGGCCGGCGGGCT:CGGCGGGCT
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCGGGCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.153002599_153002623del, NC_000006.11:g.153323734_153323758del, NM_019041.7:c.72_96del, NM_019041.6:c.72_96del, NM_019041.5:c.72_96del, NM_001114184.3:c.72_96del, NM_001114184.2:c.72_96del, NM_001114184.1:c.72_96del, NM_001301047.3:c.72_96del, NM_001301047.2:c.72_96del, NM_001301047.1:c.72_96del, NM_001301871.2:c.-330_-306del, NM_001301871.1:c.-330_-306del, NM_001301870.2:c.72_96del, NM_001301870.1:c.72_96del, NR_126056.2:n.96_120del, NR_126056.1:n.202_226del, NM_001301872.2:c.72_96del, NM_001301872.1:c.72_96del, XM_047418905.1:c.72_96del, NP_061914.3:p.Pro25fs, NP_001107656.1:p.Pro25fs, NP_001287976.1:p.Pro25fs, NP_001288799.1:p.Pro25fs, NP_001288801.1:p.Pro25fs, XP_047274861.1:p.Pro25fs

Select item 14645571199.

rs1464557119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:152998584 (GRCh38)
6:153319719 (GRCh37)
Canonical SPDI:: NC_000006.12:152998583:A:T
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.152998584A>T, NC_000006.11:g.153319719A>T, NM_019041.7:c.305T>A, NM_019041.6:c.305T>A, NM_019041.5:c.305T>A, NM_001114184.3:c.305T>A, NM_001114184.2:c.305T>A, NM_001114184.1:c.305T>A, NM_001301047.3:c.305T>A, NM_001301047.2:c.305T>A, NM_001301047.1:c.305T>A, NM_001301871.2:c.-97T>A, NM_001301871.1:c.-97T>A, NM_001301870.2:c.305T>A, NM_001301870.1:c.305T>A, NR_126056.2:n.329T>A, NR_126056.1:n.435T>A, NM_001301872.2:c.305T>A, NM_001301872.1:c.305T>A, XM_047418907.1:c.-97T>A, XM_047418905.1:c.305T>A, NP_061914.3:p.Leu102Ter, NP_001107656.1:p.Leu102Ter, NP_001287976.1:p.Leu102Ter, NP_001288799.1:p.Leu102Ter, NP_001288801.1:p.Leu102Ter, XP_047274861.1:p.Leu102Ter

Select item 146359367110.

rs1463593671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:153002463 (GRCh38)
6:153323598 (GRCh37)
Canonical SPDI:: NC_000006.12:153002462:C:G,NC_000006.12:153002462:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.153002463C>G, NC_000006.12:g.153002463C>T, NC_000006.11:g.153323598C>G, NC_000006.11:g.153323598C>T, NM_019041.7:c.223G>C, NM_019041.7:c.223G>A, NM_019041.6:c.223G>C, NM_019041.6:c.223G>A, NM_019041.5:c.223G>C, NM_019041.5:c.223G>A, NM_001114184.3:c.223G>C, NM_001114184.3:c.223G>A, NM_001114184.2:c.223G>C, NM_001114184.2:c.223G>A, NM_001114184.1:c.223G>C, NM_001114184.1:c.223G>A, NM_001301047.3:c.223G>C, NM_001301047.3:c.223G>A, NM_001301047.2:c.223G>C, NM_001301047.2:c.223G>A, NM_001301047.1:c.223G>C, NM_001301047.1:c.223G>A, NM_001301871.2:c.-179G>C, NM_001301871.2:c.-179G>A, NM_001301871.1:c.-179G>C, NM_001301871.1:c.-179G>A, NM_001301870.2:c.223G>C, NM_001301870.2:c.223G>A, NM_001301870.1:c.223G>C, NM_001301870.1:c.223G>A, NR_126056.2:n.247G>C, NR_126056.2:n.247G>A, NR_126056.1:n.353G>C, NR_126056.1:n.353G>A, NM_001301872.2:c.223G>C, NM_001301872.2:c.223G>A, NM_001301872.1:c.223G>C, NM_001301872.1:c.223G>A, XM_047418905.1:c.223G>C, XM_047418905.1:c.223G>A, NP_061914.3:p.Glu75Gln, NP_061914.3:p.Glu75Lys, NP_001107656.1:p.Glu75Gln, NP_001107656.1:p.Glu75Lys, NP_001287976.1:p.Glu75Gln, NP_001287976.1:p.Glu75Lys, NP_001288799.1:p.Glu75Gln, NP_001288799.1:p.Glu75Lys, NP_001288801.1:p.Glu75Gln, NP_001288801.1:p.Glu75Lys, XP_047274861.1:p.Glu75Gln, XP_047274861.1:p.Glu75Lys

Select item 146234350511.

rs1462343505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:153002577 (GRCh38)
6:153323712 (GRCh37)
Canonical SPDI:: NC_000006.12:153002576:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.153002577A>G, NC_000006.11:g.153323712A>G, NM_019041.7:c.109T>C, NM_019041.6:c.109T>C, NM_019041.5:c.109T>C, NM_001114184.3:c.109T>C, NM_001114184.2:c.109T>C, NM_001114184.1:c.109T>C, NM_001301047.3:c.109T>C, NM_001301047.2:c.109T>C, NM_001301047.1:c.109T>C, NM_001301871.2:c.-293T>C, NM_001301871.1:c.-293T>C, NM_001301870.2:c.109T>C, NM_001301870.1:c.109T>C, NR_126056.2:n.133T>C, NR_126056.1:n.239T>C, NM_001301872.2:c.109T>C, NM_001301872.1:c.109T>C, XM_047418905.1:c.109T>C, NP_061914.3:p.Phe37Leu, NP_001107656.1:p.Phe37Leu, NP_001287976.1:p.Phe37Leu, NP_001288799.1:p.Phe37Leu, NP_001288801.1:p.Phe37Leu, XP_047274861.1:p.Phe37Leu

Select item 146157700912.

rs1461577009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002594 (GRCh38)
6:153323729 (GRCh37)
Canonical SPDI:: NC_000006.12:153002593:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000006.12:g.153002594G>A, NC_000006.11:g.153323729G>A, NM_019041.7:c.92C>T, NM_019041.6:c.92C>T, NM_019041.5:c.92C>T, NM_001114184.3:c.92C>T, NM_001114184.2:c.92C>T, NM_001114184.1:c.92C>T, NM_001301047.3:c.92C>T, NM_001301047.2:c.92C>T, NM_001301047.1:c.92C>T, NM_001301871.2:c.-310C>T, NM_001301871.1:c.-310C>T, NM_001301870.2:c.92C>T, NM_001301870.1:c.92C>T, NR_126056.2:n.116C>T, NR_126056.1:n.222C>T, NM_001301872.2:c.92C>T, NM_001301872.1:c.92C>T, XM_047418905.1:c.92C>T, NP_061914.3:p.Pro31Leu, NP_001107656.1:p.Pro31Leu, NP_001287976.1:p.Pro31Leu, NP_001288799.1:p.Pro31Leu, NP_001288801.1:p.Pro31Leu, XP_047274861.1:p.Pro31Leu

Select item 145782848213.

rs1457828482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:153002460 (GRCh38)
6:153323595 (GRCh37)
Canonical SPDI:: NC_000006.12:153002459:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.153002460G>A, NC_000006.11:g.153323595G>A, NM_019041.7:c.226C>T, NM_019041.6:c.226C>T, NM_019041.5:c.226C>T, NM_001114184.3:c.226C>T, NM_001114184.2:c.226C>T, NM_001114184.1:c.226C>T, NM_001301047.3:c.226C>T, NM_001301047.2:c.226C>T, NM_001301047.1:c.226C>T, NM_001301871.2:c.-176C>T, NM_001301871.1:c.-176C>T, NM_001301870.2:c.226C>T, NM_001301870.1:c.226C>T, NR_126056.2:n.250C>T, NR_126056.1:n.356C>T, NM_001301872.2:c.226C>T, NM_001301872.1:c.226C>T, XM_047418905.1:c.226C>T, NP_061914.3:p.Arg76Trp, NP_001107656.1:p.Arg76Trp, NP_001287976.1:p.Arg76Trp, NP_001288799.1:p.Arg76Trp, NP_001288801.1:p.Arg76Trp, XP_047274861.1:p.Arg76Trp

Select item 145648325314.

rs1456483253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:152995190 (GRCh38)
6:153316325 (GRCh37)
Canonical SPDI:: NC_000006.12:152995189:C:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152995190C>A, NC_000006.11:g.153316325C>A, NM_019041.7:c.469G>T, NM_019041.6:c.469G>T, NM_019041.5:c.469G>T, NM_001114184.3:c.469G>T, NM_001114184.2:c.469G>T, NM_001114184.1:c.469G>T, NM_001301871.2:c.43G>T, NM_001301871.1:c.43G>T, NR_126056.2:n.468G>T, NR_126056.1:n.574G>T, XM_047418906.1:c.43G>T, XM_047418907.1:c.43G>T, XM_047418905.1:c.469G>T, NP_061914.3:p.Ala157Ser, NP_001107656.1:p.Ala157Ser, NP_001288800.1:p.Ala15Ser, XP_047274862.1:p.Ala15Ser, XP_047274863.1:p.Ala15Ser, XP_047274861.1:p.Ala157Ser

Select item 145151460915.

rs1451514609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152998607 (GRCh38)
6:153319742 (GRCh37)
Canonical SPDI:: NC_000006.12:152998606:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152998607T>C, NC_000006.11:g.153319742T>C, NM_019041.7:c.282A>G, NM_019041.6:c.282A>G, NM_019041.5:c.282A>G, NM_001114184.3:c.282A>G, NM_001114184.2:c.282A>G, NM_001114184.1:c.282A>G, NM_001301047.3:c.282A>G, NM_001301047.2:c.282A>G, NM_001301047.1:c.282A>G, NM_001301871.2:c.-120A>G, NM_001301871.1:c.-120A>G, NM_001301870.2:c.282A>G, NM_001301870.1:c.282A>G, NR_126056.2:n.306A>G, NR_126056.1:n.412A>G, NM_001301872.2:c.282A>G, NM_001301872.1:c.282A>G, XM_047418907.1:c.-120A>G, XM_047418905.1:c.282A>G

Select item 145096832516.

rs1450968325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152992859 (GRCh38)
6:153313994 (GRCh37)
Canonical SPDI:: NC_000006.12:152992858:G:C
Gene:: MTRF1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.152992859G>C, NC_000006.11:g.153313994G>C, NM_019041.7:c.803C>G, NM_019041.6:c.803C>G, NM_019041.5:c.803C>G, NM_001114184.3:c.803C>G, NM_001114184.2:c.803C>G, NM_001114184.1:c.803C>G, NM_001301047.3:c.695C>G, NM_001301047.2:c.695C>G, NM_001301047.1:c.695C>G, NM_001301871.2:c.377C>G, NM_001301871.1:c.377C>G, NM_001301870.2:c.695C>G, NM_001301870.1:c.695C>G, NR_126056.2:n.802C>G, NR_126056.1:n.908C>G, XM_047418906.1:c.377C>G, XM_047418907.1:c.377C>G, XM_047418905.1:c.803C>G, NP_061914.3:p.Thr268Arg, NP_001107656.1:p.Thr268Arg, NP_001287976.1:p.Thr232Arg, NP_001288800.1:p.Thr126Arg, NP_001288799.1:p.Thr232Arg, XP_047274862.1:p.Thr126Arg, XP_047274863.1:p.Thr126Arg, XP_047274861.1:p.Thr268Arg

Select item 144846850017.

rs1448468500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:152995156 (GRCh38)
6:153316291 (GRCh37)
Canonical SPDI:: NC_000006.12:152995155:T:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152995156T>G, NC_000006.11:g.153316291T>G, NM_019041.7:c.503A>C, NM_019041.6:c.503A>C, NM_019041.5:c.503A>C, NM_001114184.3:c.503A>C, NM_001114184.2:c.503A>C, NM_001114184.1:c.503A>C, NM_001301871.2:c.77A>C, NM_001301871.1:c.77A>C, NR_126056.2:n.502A>C, NR_126056.1:n.608A>C, XM_047418906.1:c.77A>C, XM_047418907.1:c.77A>C, XM_047418905.1:c.503A>C, NP_061914.3:p.Glu168Ala, NP_001107656.1:p.Glu168Ala, NP_001288800.1:p.Glu26Ala, XP_047274862.1:p.Glu26Ala, XP_047274863.1:p.Glu26Ala, XP_047274861.1:p.Glu168Ala

Select item 144079761618.

rs1440797616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:153002677 (GRCh38)
6:153323812 (GRCh37)
Canonical SPDI:: NC_000006.12:153002676:G:A,NC_000006.12:153002676:G:T
Gene:: MTRF1L (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.153002677G>A, NC_000006.12:g.153002677G>T, NC_000006.11:g.153323812G>A, NC_000006.11:g.153323812G>T, NM_019041.7:c.9C>T, NM_019041.7:c.9C>A, NM_019041.6:c.9C>T, NM_019041.6:c.9C>A, NM_019041.5:c.9C>T, NM_019041.5:c.9C>A, NM_001114184.3:c.9C>T, NM_001114184.3:c.9C>A, NM_001114184.2:c.9C>T, NM_001114184.2:c.9C>A, NM_001114184.1:c.9C>T, NM_001114184.1:c.9C>A, NM_001301047.3:c.9C>T, NM_001301047.3:c.9C>A, NM_001301047.2:c.9C>T, NM_001301047.2:c.9C>A, NM_001301047.1:c.9C>T, NM_001301047.1:c.9C>A, NM_001301871.2:c.-393C>T, NM_001301871.2:c.-393C>A, NM_001301871.1:c.-393C>T, NM_001301871.1:c.-393C>A, NM_001301870.2:c.9C>T, NM_001301870.2:c.9C>A, NM_001301870.1:c.9C>T, NM_001301870.1:c.9C>A, NR_126056.2:n.33C>T, NR_126056.2:n.33C>A, NR_126056.1:n.139C>T, NR_126056.1:n.139C>A, NM_001301872.2:c.9C>T, NM_001301872.2:c.9C>A, NM_001301872.1:c.9C>T, NM_001301872.1:c.9C>A, XM_047418905.1:c.9C>T, XM_047418905.1:c.9C>A

Select item 144069086219.

rs1440690862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:152992895 (GRCh38)
6:153314030 (GRCh37)
Canonical SPDI:: NC_000006.12:152992894:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.152992895G>A, NC_000006.11:g.153314030G>A, NM_019041.7:c.767C>T, NM_019041.6:c.767C>T, NM_019041.5:c.767C>T, NM_001114184.3:c.767C>T, NM_001114184.2:c.767C>T, NM_001114184.1:c.767C>T, NM_001301047.3:c.659C>T, NM_001301047.2:c.659C>T, NM_001301047.1:c.659C>T, NM_001301871.2:c.341C>T, NM_001301871.1:c.341C>T, NM_001301870.2:c.659C>T, NM_001301870.1:c.659C>T, NR_126056.2:n.766C>T, NR_126056.1:n.872C>T, XM_047418906.1:c.341C>T, XM_047418907.1:c.341C>T, XM_047418905.1:c.767C>T, NP_061914.3:p.Thr256Ile, NP_001107656.1:p.Thr256Ile, NP_001287976.1:p.Thr220Ile, NP_001288800.1:p.Thr114Ile, NP_001288799.1:p.Thr220Ile, XP_047274862.1:p.Thr114Ile, XP_047274863.1:p.Thr114Ile, XP_047274861.1:p.Thr256Ile

Select item 143873515220.

rs1438735152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:153002468 (GRCh38)
6:153323603 (GRCh37)
Canonical SPDI:: NC_000006.12:153002467:T:G
Gene:: MTRF1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.153002468T>G, NC_000006.11:g.153323603T>G, NM_019041.7:c.218A>C, NM_019041.6:c.218A>C, NM_019041.5:c.218A>C, NM_001114184.3:c.218A>C, NM_001114184.2:c.218A>C, NM_001114184.1:c.218A>C, NM_001301047.3:c.218A>C, NM_001301047.2:c.218A>C, NM_001301047.1:c.218A>C, NM_001301871.2:c.-184A>C, NM_001301871.1:c.-184A>C, NM_001301870.2:c.218A>C, NM_001301870.1:c.218A>C, NR_126056.2:n.242A>C, NR_126056.1:n.348A>C, NM_001301872.2:c.218A>C, NM_001301872.1:c.218A>C, XM_047418905.1:c.218A>C, NP_061914.3:p.Glu73Ala, NP_001107656.1:p.Glu73Ala, NP_001287976.1:p.Glu73Ala, NP_001288799.1:p.Glu73Ala, NP_001288801.1:p.Glu73Ala, XP_047274861.1:p.Glu73Ala

dbSNP

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