SNP Links for Protein (Select 70995211) - SNP

Links from Protein

Items: 1 to 20 of 418

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Select item 14875003751.

rs1487500375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38831486 (GRCh38)
19:39322126 (GRCh37)
Canonical SPDI:: NC_000019.10:38831485:C:T
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38831486C>T, NC_000019.9:g.39322126C>T, NW_014040929.1:g.241158C>T, NM_001398.3:c.83G>A, NM_001398.2:c.83G>A, XM_017026448.2:c.-158G>A, XM_017026448.1:c.-158G>A, NP_001389.2:p.Ser28Asn

Select item 14852841762.

rs1485284176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38815715 (GRCh38)
19:39306355 (GRCh37)
Canonical SPDI:: NC_000019.10:38815714:C:T
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38815715C>T, NC_000019.9:g.39306355C>T, NW_014040929.1:g.225387C>T, NM_001398.3:c.885G>A, NM_001398.2:c.885G>A, XM_017026448.2:c.645G>A, XM_017026448.1:c.645G>A

Select item 14813071033.

rs1481307103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38831492 (GRCh38)
19:39322132 (GRCh37)
Canonical SPDI:: NC_000019.10:38831491:C:T
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38831492C>T, NC_000019.9:g.39322132C>T, NW_014040929.1:g.241164C>T, NM_001398.3:c.77G>A, NM_001398.2:c.77G>A, XM_017026448.2:c.-164G>A, XM_017026448.1:c.-164G>A, NP_001389.2:p.Gly26Glu

Select item 14780315294.

rs1478031529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38817519 (GRCh38)
19:39308159 (GRCh37)
Canonical SPDI:: NC_000019.10:38817518:C:A
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.38817519C>A, NC_000019.9:g.39308159C>A, NW_014040929.1:g.227191C>A, NM_001398.3:c.406G>T, NM_001398.2:c.406G>T, XM_017026448.2:c.166G>T, XM_017026448.1:c.166G>T, NP_001389.2:p.Ala136Ser, XP_016881937.1:p.Ala56Ser

Select item 14776101905.

rs1477610190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:38831363 (GRCh38)
19:39322003 (GRCh37)
Canonical SPDI:: NC_000019.10:38831362:T:C,NC_000019.10:38831362:T:G
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38831363T>C, NC_000019.10:g.38831363T>G, NC_000019.9:g.39322003T>C, NC_000019.9:g.39322003T>G, NW_014040929.1:g.241035T>C, NW_014040929.1:g.241035T>G, NM_001398.3:c.206A>G, NM_001398.3:c.206A>C, NM_001398.2:c.206A>G, NM_001398.2:c.206A>C, XM_017026448.2:c.-35A>G, XM_017026448.2:c.-35A>C, XM_017026448.1:c.-35A>G, XM_017026448.1:c.-35A>C, NP_001389.2:p.His69Arg, NP_001389.2:p.His69Pro

Select item 14765435056.

rs1476543505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:38831759 (GRCh38)
19:39322399 (GRCh37)
Canonical SPDI:: NC_000019.10:38831758:A:C,NC_000019.10:38831758:A:G
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.38831759A>C, NC_000019.10:g.38831759A>G, NC_000019.9:g.39322399A>C, NC_000019.9:g.39322399A>G, NW_014040929.1:g.241431A>C, NW_014040929.1:g.241431A>G, NM_001398.3:c.14T>G, NM_001398.3:c.14T>C, NM_001398.2:c.14T>G, NM_001398.2:c.14T>C, XM_017026448.2:c.-252T>G, XM_017026448.2:c.-252T>C, XM_017026448.1:c.-252T>G, XM_017026448.1:c.-252T>C, NP_001389.2:p.Ile5Arg, NP_001389.2:p.Ile5Thr

Select item 14747624117.

rs1474762411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38816458 (GRCh38)
19:39307098 (GRCh37)
Canonical SPDI:: NC_000019.10:38816457:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38816458G>A, NC_000019.9:g.39307098G>A, NW_014040929.1:g.226130G>A, NM_001398.3:c.654C>T, NM_001398.2:c.654C>T, XM_017026448.2:c.414C>T, XM_017026448.1:c.414C>T

Select item 14744081288.

rs1474408128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38815932 (GRCh38)
19:39306572 (GRCh37)
Canonical SPDI:: NC_000019.10:38815931:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38815932G>A, NC_000019.9:g.39306572G>A, NW_014040929.1:g.225604G>A, NM_001398.3:c.807C>T, NM_001398.2:c.807C>T, XM_017026448.2:c.567C>T, XM_017026448.1:c.567C>T

Select item 14625866129.

rs1462586612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38831460 (GRCh38)
19:39322100 (GRCh37)
Canonical SPDI:: NC_000019.10:38831459:A:G
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.38831460A>G, NC_000019.9:g.39322100A>G, NW_014040929.1:g.241132A>G, NM_001398.3:c.109T>C, NM_001398.2:c.109T>C, XM_017026448.2:c.-132T>C, XM_017026448.1:c.-132T>C, NP_001389.2:p.Ser37Pro

Select item 145694231410.

rs1456942314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38831436 (GRCh38)
19:39322076 (GRCh37)
Canonical SPDI:: NC_000019.10:38831435:C:T
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38831436C>T, NC_000019.9:g.39322076C>T, NW_014040929.1:g.241108C>T, NM_001398.3:c.133G>A, NM_001398.2:c.133G>A, XM_017026448.2:c.-108G>A, XM_017026448.1:c.-108G>A, NP_001389.2:p.Val45Ile

Select item 145472521211.

rs1454725212 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCC [Show Flanks]
Chromosome:: 19:38815873 (GRCh38)
19:39306514 (GRCh37)
Canonical SPDI:: NC_000019.10:38815873:CGGCC:CGGCCCGGCC
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000019.10:g.38815874_38815878dup, NC_000019.9:g.39306514_39306518dup, NW_014040929.1:g.225546_225550dup, NM_001398.3:c.861_865dup, NM_001398.2:c.861_865dup, XM_017026448.2:c.621_625dup, XM_017026448.1:c.621_625dup, NP_001389.2:p.Glu289fs, XP_016881937.1:p.Glu209fs

Select item 145226297012.

rs1452262970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:38817106 (GRCh38)
19:39307746 (GRCh37)
Canonical SPDI:: NC_000019.10:38817105:C:G
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38817106C>G, NC_000019.9:g.39307746C>G, NW_014040929.1:g.226778C>G, NM_001398.3:c.547G>C, NM_001398.2:c.547G>C, XM_017026448.2:c.307G>C, XM_017026448.1:c.307G>C, NP_001389.2:p.Asp183His, XP_016881937.1:p.Asp103His

Select item 144654807813.

rs1446548078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38831480 (GRCh38)
19:39322120 (GRCh37)
Canonical SPDI:: NC_000019.10:38831479:C:A
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.38831480C>A, NC_000019.9:g.39322120C>A, NW_014040929.1:g.241152C>A, NM_001398.3:c.89G>T, NM_001398.2:c.89G>T, XM_017026448.2:c.-152G>T, XM_017026448.1:c.-152G>T, NP_001389.2:p.Ser30Ile

Select item 144582088114.

rs1445820881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38831150 (GRCh38)
19:39321790 (GRCh37)
Canonical SPDI:: NC_000019.10:38831149:A:G
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38831150A>G, NC_000019.9:g.39321790A>G, NW_014040929.1:g.240822A>G, NM_001398.3:c.277T>C, NM_001398.2:c.277T>C, XM_017026448.2:c.37T>C, XM_017026448.1:c.37T>C, NP_001389.2:p.Phe93Leu, XP_016881937.1:p.Phe13Leu

Select item 143907980815.

rs1439079808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38831378 (GRCh38)
19:39322018 (GRCh37)
Canonical SPDI:: NC_000019.10:38831377:T:C
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38831378T>C, NC_000019.9:g.39322018T>C, NW_014040929.1:g.241050T>C, NM_001398.3:c.191A>G, NM_001398.2:c.191A>G, XM_017026448.2:c.-50A>G, XM_017026448.1:c.-50A>G, NP_001389.2:p.Gln64Arg

Select item 143855219516.

rs1438552195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38817336 (GRCh38)
19:39307976 (GRCh37)
Canonical SPDI:: NC_000019.10:38817335:T:C
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38817336T>C, NC_000019.9:g.39307976T>C, NW_014040929.1:g.227008T>C, NM_001398.3:c.503A>G, NM_001398.2:c.503A>G, XM_017026448.2:c.263A>G, XM_017026448.1:c.263A>G, NP_001389.2:p.His168Arg, XP_016881937.1:p.His88Arg

Select item 143719072617.

rs1437190726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38817074 (GRCh38)
19:39307714 (GRCh37)
Canonical SPDI:: NC_000019.10:38817073:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.38817074G>A, NC_000019.9:g.39307714G>A, NW_014040929.1:g.226746G>A, NM_001398.3:c.579C>T, NM_001398.2:c.579C>T, XM_017026448.2:c.339C>T, XM_017026448.1:c.339C>T

Select item 143703195218.

rs1437031952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:38817101 (GRCh38)
19:39307741 (GRCh37)
Canonical SPDI:: NC_000019.10:38817100:G:C
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38817101G>C, NC_000019.9:g.39307741G>C, NW_014040929.1:g.226773G>C, NM_001398.3:c.552C>G, NM_001398.2:c.552C>G, XM_017026448.2:c.312C>G, XM_017026448.1:c.312C>G, NP_001389.2:p.Ile184Met, XP_016881937.1:p.Ile104Met

Select item 143299744219.

rs1432997442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:38815626 (GRCh38)
19:39306266 (GRCh37)
Canonical SPDI:: NC_000019.10:38815625:A:T
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38815626A>T, NC_000019.9:g.39306266A>T, NW_014040929.1:g.225298A>T, NM_001398.3:c.974T>A, NM_001398.2:c.974T>A, XM_017026448.2:c.734T>A, XM_017026448.1:c.734T>A, NP_001389.2:p.Phe325Tyr, XP_016881937.1:p.Phe245Tyr

Select item 143231024220.

rs1432310242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38831391 (GRCh38)
19:39322031 (GRCh37)
Canonical SPDI:: NC_000019.10:38831390:C:A
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38831391C>A, NC_000019.9:g.39322031C>A, NW_014040929.1:g.241063C>A, NM_001398.3:c.178G>T, NM_001398.2:c.178G>T, XM_017026448.2:c.-63G>T, XM_017026448.1:c.-63G>T, NP_001389.2:p.Val60Leu

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