Canonical Allele Identifier: CA889497
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044266
ClinVar RCV Id: RCV002903558 RCV003906291
dbSNP Id: rs147540336
ExAC: 1:64095110 T / C
gnomAD v2: 1-64095110-T-C
gnomAD v3: 1-63629439-T-C
gnomAD v4: 1-63629439-T-C
MyVariant Identifiers: chr1:g.64095110T>C (hg19) chr1:g.63629439T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629439T>C , CM000663.2:g.63629439T>C GRCh38
NC_000001.10:g.64095110T>C , CM000663.1:g.64095110T>C GRCh37
NC_000001.9:g.63867698T>C NCBI36
NG_016966.1:g.41164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.261T>C MANE Select ENSP00000360125.3:p.Val87=
ENST00000650546.1:c.261T>C ENSP00000497812.1:p.Val87=
ENST00000371083.4:c.315T>C ENSP00000360124.4:p.Val105=
ENST00000371084.7:c.261T>C ENSP00000360125.3:p.Val87=
ENST00000540265.5:c.-331T>C ENSP00000443449.1:n.-331T>C
NM_001172818.1:c.315T>C NP_001166289.1:p.Val105=
NM_001172819.1:c.-331T>C NP_001166290.1:n.-331T>C
NM_002633.2:c.261T>C NP_002624.2:p.Val87=
NM_002633.3:c.261T>C MANE Select NP_002624.2:p.Val87=
NM_001172819.2:c.-331T>C NP_001166290.1:n.-331T>C
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