SNP Links for Protein (Select 688955163) - SNP

Links from Protein

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Select item 14894104431.

rs1489410443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152989947 (GRCh38)
6:153311082 (GRCh37)
Canonical SPDI:: NC_000006.12:152989946:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152989947T>C, NC_000006.11:g.153311082T>C, NM_019041.7:c.1091A>G, NM_019041.6:c.1091A>G, NM_019041.5:c.1091A>G, NM_001114184.3:c.*138A>G, NM_001114184.2:c.*138A>G, NM_001114184.1:c.*138A>G, NM_001301047.3:c.*138A>G, NM_001301047.2:c.*138A>G, NM_001301047.1:c.*138A>G, NM_001301871.2:c.665A>G, NM_001301871.1:c.665A>G, NM_001301870.2:c.983A>G, NM_001301870.1:c.983A>G, NR_126056.2:n.953A>G, NR_126056.1:n.1059A>G, XM_047418906.1:c.665A>G, XM_047418907.1:c.665A>G, NP_061914.3:p.Lys364Arg, NP_001288800.1:p.Lys222Arg, NP_001288799.1:p.Lys328Arg, XP_047274862.1:p.Lys222Arg, XP_047274863.1:p.Lys222Arg

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 14785460134.

rs1478546013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:152990012 (GRCh38)
6:153311147 (GRCh37)
Canonical SPDI:: NC_000006.12:152990011:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.152990012C>T, NC_000006.11:g.153311147C>T, NM_019041.7:c.1026G>A, NM_019041.6:c.1026G>A, NM_019041.5:c.1026G>A, NM_001114184.3:c.*73G>A, NM_001114184.2:c.*73G>A, NM_001114184.1:c.*73G>A, NM_001301047.3:c.*73G>A, NM_001301047.2:c.*73G>A, NM_001301047.1:c.*73G>A, NM_001301871.2:c.600G>A, NM_001301871.1:c.600G>A, NM_001301870.2:c.918G>A, NM_001301870.1:c.918G>A, NR_126056.2:n.888G>A, NR_126056.1:n.994G>A, XM_047418906.1:c.600G>A, XM_047418907.1:c.600G>A

Select item 14764006195.

rs1476400619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:152990045 (GRCh38)
6:153311180 (GRCh37)
Canonical SPDI:: NC_000006.12:152990044:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152990045C>T, NC_000006.11:g.153311180C>T, NM_019041.7:c.993G>A, NM_019041.6:c.993G>A, NM_019041.5:c.993G>A, NM_001114184.3:c.*40G>A, NM_001114184.2:c.*40G>A, NM_001114184.1:c.*40G>A, NM_001301047.3:c.*40G>A, NM_001301047.2:c.*40G>A, NM_001301047.1:c.*40G>A, NM_001301871.2:c.567G>A, NM_001301871.1:c.567G>A, NM_001301870.2:c.885G>A, NM_001301870.1:c.885G>A, NR_126056.2:n.855G>A, NR_126056.1:n.961G>A, XM_047418906.1:c.567G>A, XM_047418907.1:c.567G>A

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 14691373387.

rs1469137338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:152991186 (GRCh38)
6:153312321 (GRCh37)
Canonical SPDI:: NC_000006.12:152991185:T:C
Gene:: MTRF1L (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.152991186T>C, NC_000006.11:g.153312321T>C, NM_019041.7:c.941A>G, NM_019041.6:c.941A>G, NM_019041.5:c.941A>G, NM_001301871.2:c.515A>G, NM_001301871.1:c.515A>G, NM_001301870.2:c.833A>G, NM_001301870.1:c.833A>G, XM_047418906.1:c.515A>G, XM_047418907.1:c.515A>G, NP_061914.3:p.Gln314Arg, NP_001288800.1:p.Gln172Arg, NP_001288799.1:p.Gln278Arg, XP_047274862.1:p.Gln172Arg, XP_047274863.1:p.Gln172Arg

Select item 14638216058.

rs1463821605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:152989999 (GRCh38)
6:153311134 (GRCh37)
Canonical SPDI:: NC_000006.12:152989998:C:A,NC_000006.12:152989998:C:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000006.12:g.152989999C>A, NC_000006.12:g.152989999C>G, NC_000006.11:g.153311134C>A, NC_000006.11:g.153311134C>G, NM_019041.7:c.1039G>T, NM_019041.7:c.1039G>C, NM_019041.6:c.1039G>T, NM_019041.6:c.1039G>C, NM_019041.5:c.1039G>T, NM_019041.5:c.1039G>C, NM_001114184.3:c.*86G>T, NM_001114184.3:c.*86G>C, NM_001114184.2:c.*86G>T, NM_001114184.2:c.*86G>C, NM_001114184.1:c.*86G>T, NM_001114184.1:c.*86G>C, NM_001301047.3:c.*86G>T, NM_001301047.3:c.*86G>C, NM_001301047.2:c.*86G>T, NM_001301047.2:c.*86G>C, NM_001301047.1:c.*86G>T, NM_001301047.1:c.*86G>C, NM_001301871.2:c.613G>T, NM_001301871.2:c.613G>C, NM_001301871.1:c.613G>T, NM_001301871.1:c.613G>C, NM_001301870.2:c.931G>T, NM_001301870.2:c.931G>C, NM_001301870.1:c.931G>T, NM_001301870.1:c.931G>C, NR_126056.2:n.901G>T, NR_126056.2:n.901G>C, NR_126056.1:n.1007G>T, NR_126056.1:n.1007G>C, XM_047418906.1:c.613G>T, XM_047418906.1:c.613G>C, XM_047418907.1:c.613G>T, XM_047418907.1:c.613G>C, NP_061914.3:p.Glu347Ter, NP_061914.3:p.Glu347Gln, NP_001288800.1:p.Glu205Ter, NP_001288800.1:p.Glu205Gln, NP_001288799.1:p.Glu311Ter, NP_001288799.1:p.Glu311Gln, XP_047274862.1:p.Glu205Ter, XP_047274862.1:p.Glu205Gln, XP_047274863.1:p.Glu205Ter, XP_047274863.1:p.Glu205Gln

Select item 14572674969.

rs1457267496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:152990054 (GRCh38)
6:153311189 (GRCh37)
Canonical SPDI:: NC_000006.12:152990053:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152990054A>G, NC_000006.11:g.153311189A>G, NM_019041.7:c.984T>C, NM_019041.6:c.984T>C, NM_019041.5:c.984T>C, NM_001114184.3:c.*31T>C, NM_001114184.2:c.*31T>C, NM_001114184.1:c.*31T>C, NM_001301047.3:c.*31T>C, NM_001301047.2:c.*31T>C, NM_001301047.1:c.*31T>C, NM_001301871.2:c.558T>C, NM_001301871.1:c.558T>C, NM_001301870.2:c.876T>C, NM_001301870.1:c.876T>C, NR_126056.2:n.846T>C, NR_126056.1:n.952T>C, XM_047418906.1:c.558T>C, XM_047418907.1:c.558T>C

Select item 145648325310.

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 145260784511.

rs1452607845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:152989937 (GRCh38)
6:153311072 (GRCh37)
Canonical SPDI:: NC_000006.12:152989936:G:A
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.152989937G>A, NC_000006.11:g.153311072G>A, NM_019041.7:c.1101C>T, NM_019041.6:c.1101C>T, NM_019041.5:c.1101C>T, NM_001114184.3:c.*148C>T, NM_001114184.2:c.*148C>T, NM_001114184.1:c.*148C>T, NM_001301047.3:c.*148C>T, NM_001301047.2:c.*148C>T, NM_001301047.1:c.*148C>T, NM_001301871.2:c.675C>T, NM_001301871.1:c.675C>T, NM_001301870.2:c.993C>T, NM_001301870.1:c.993C>T, NR_126056.2:n.963C>T, NR_126056.1:n.1069C>T, XM_047418906.1:c.675C>T, XM_047418907.1:c.675C>T

Select item 145096832512.

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 144846850013.

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 144382338414.

rs1443823384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:152989923 (GRCh38)
6:153311058 (GRCh37)
Canonical SPDI:: NC_000006.12:152989922:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.152989923A>G, NC_000006.11:g.153311058A>G, NM_019041.7:c.1115T>C, NM_019041.6:c.1115T>C, NM_019041.5:c.1115T>C, NM_001114184.3:c.*162T>C, NM_001114184.2:c.*162T>C, NM_001114184.1:c.*162T>C, NM_001301047.3:c.*162T>C, NM_001301047.2:c.*162T>C, NM_001301047.1:c.*162T>C, NM_001301871.2:c.689T>C, NM_001301871.1:c.689T>C, NM_001301870.2:c.1007T>C, NM_001301870.1:c.1007T>C, NR_126056.2:n.977T>C, NR_126056.1:n.1083T>C, XM_047418906.1:c.689T>C, XM_047418907.1:c.689T>C, NP_061914.3:p.Leu372Ser, NP_001288800.1:p.Leu230Ser, NP_001288799.1:p.Leu336Ser, XP_047274862.1:p.Leu230Ser, XP_047274863.1:p.Leu230Ser

Select item 144069086215.

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 144047684316.

rs1440476843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:152989911 (GRCh38)
6:153311046 (GRCh37)
Canonical SPDI:: NC_000006.12:152989910:A:G
Gene:: MTRF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.152989911A>G, NC_000006.11:g.153311046A>G, NM_019041.7:c.1127T>C, NM_019041.6:c.1127T>C, NM_019041.5:c.1127T>C, NM_001114184.3:c.*174T>C, NM_001114184.2:c.*174T>C, NM_001114184.1:c.*174T>C, NM_001301047.3:c.*174T>C, NM_001301047.2:c.*174T>C, NM_001301047.1:c.*174T>C, NM_001301871.2:c.701T>C, NM_001301871.1:c.701T>C, NM_001301870.2:c.1019T>C, NM_001301870.1:c.1019T>C, NR_126056.2:n.989T>C, NR_126056.1:n.1095T>C, XM_047418906.1:c.701T>C, XM_047418907.1:c.701T>C, NP_061914.3:p.Ile376Thr, NP_001288800.1:p.Ile234Thr, NP_001288799.1:p.Ile340Thr, XP_047274862.1:p.Ile234Thr, XP_047274863.1:p.Ile234Thr

Select item 143868627317.

rs1438686273 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:152994643 (GRCh38)
6:153315778 (GRCh37)
Canonical SPDI:: NC_000006.12:152994642:CCCCC:CCCC
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.152994647del, NC_000006.11:g.153315782del, NM_019041.7:c.557del, NM_019041.6:c.557del, NM_019041.5:c.557del, NM_001114184.3:c.557del, NM_001114184.2:c.557del, NM_001114184.1:c.557del, NM_001301047.3:c.449del, NM_001301047.2:c.449del, NM_001301047.1:c.449del, NM_001301871.2:c.131del, NM_001301871.1:c.131del, NM_001301870.2:c.449del, NM_001301870.1:c.449del, NR_126056.2:n.556del, NR_126056.1:n.662del, XM_047418906.1:c.131del, XM_047418907.1:c.131del, XM_047418905.1:c.557del, NP_061914.3:p.Gly186fs, NP_001107656.1:p.Gly186fs, NP_001287976.1:p.Gly150fs, NP_001288800.1:p.Gly44fs, NP_001288799.1:p.Gly150fs, XP_047274862.1:p.Gly44fs, XP_047274863.1:p.Gly44fs, XP_047274861.1:p.Gly186fs

Select item 143772406118.

rs1437724061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:152991250 (GRCh38)
6:153312385 (GRCh37)
Canonical SPDI:: NC_000006.12:152991249:C:A
Gene:: MTRF1L (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152991250C>A, NC_000006.11:g.153312385C>A, NM_019041.7:c.877G>T, NM_019041.6:c.877G>T, NM_019041.5:c.877G>T, NM_001301871.2:c.451G>T, NM_001301871.1:c.451G>T, NM_001301870.2:c.769G>T, NM_001301870.1:c.769G>T, XM_047418906.1:c.451G>T, XM_047418907.1:c.451G>T, XM_047418905.1:c.*129G>T, NP_061914.3:p.Ala293Ser, NP_001288800.1:p.Ala151Ser, NP_001288799.1:p.Ala257Ser, XP_047274862.1:p.Ala151Ser, XP_047274863.1:p.Ala151Ser

Select item 143519785819.

rs1435197858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:152989995 (GRCh38)
6:153311130 (GRCh37)
Canonical SPDI:: NC_000006.12:152989994:G:C
Gene:: MTRF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.152989995G>C, NC_000006.11:g.153311130G>C, NM_019041.7:c.1043C>G, NM_019041.6:c.1043C>G, NM_019041.5:c.1043C>G, NM_001114184.3:c.*90C>G, NM_001114184.2:c.*90C>G, NM_001114184.1:c.*90C>G, NM_001301047.3:c.*90C>G, NM_001301047.2:c.*90C>G, NM_001301047.1:c.*90C>G, NM_001301871.2:c.617C>G, NM_001301871.1:c.617C>G, NM_001301870.2:c.935C>G, NM_001301870.1:c.935C>G, NR_126056.2:n.905C>G, NR_126056.1:n.1011C>G, XM_047418906.1:c.617C>G, XM_047418907.1:c.617C>G, NP_061914.3:p.Thr348Ser, NP_001288800.1:p.Thr206Ser, NP_001288799.1:p.Thr312Ser, XP_047274862.1:p.Thr206Ser, XP_047274863.1:p.Thr206Ser

Select item 143118598120.

rs1431185981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:152992910 (GRCh38)
6:153314045 (GRCh37)
Canonical SPDI:: NC_000006.12:152992909:C:T
Gene:: MTRF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.152992910C>T, NC_000006.11:g.153314045C>T, NM_019041.7:c.752G>A, NM_019041.6:c.752G>A, NM_019041.5:c.752G>A, NM_001114184.3:c.752G>A, NM_001114184.2:c.752G>A, NM_001114184.1:c.752G>A, NM_001301047.3:c.644G>A, NM_001301047.2:c.644G>A, NM_001301047.1:c.644G>A, NM_001301871.2:c.326G>A, NM_001301871.1:c.326G>A, NM_001301870.2:c.644G>A, NM_001301870.1:c.644G>A, NR_126056.2:n.751G>A, NR_126056.1:n.857G>A, XM_047418906.1:c.326G>A, XM_047418907.1:c.326G>A, XM_047418905.1:c.752G>A, NP_061914.3:p.Gly251Glu, NP_001107656.1:p.Gly251Glu, NP_001287976.1:p.Gly215Glu, NP_001288800.1:p.Gly109Glu, NP_001288799.1:p.Gly215Glu, XP_047274862.1:p.Gly109Glu, XP_047274863.1:p.Gly109Glu, XP_047274861.1:p.Gly251Glu

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