Canonical Allele Identifier: CA889495
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647299
ClinVar RCV Id: RCV000801782 RCV001816861 RCV003156293
dbSNP Id: rs150286818
ExAC: 1:64095102 C / T
gnomAD v2: 1-64095102-C-T
gnomAD v3: 1-63629431-C-T
gnomAD v4: 1-63629431-C-T
MyVariant Identifiers: chr1:g.64095102C>T (hg19) chr1:g.63629431C>T (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629431C>T , CM000663.2:g.63629431C>T GRCh38
NC_000001.10:g.64095102C>T , CM000663.1:g.64095102C>T GRCh37
NC_000001.9:g.63867690C>T NCBI36
NG_016966.1:g.41156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.253C>T MANE Select ENSP00000360125.3:p.Arg85Cys
ENST00000650546.1:c.253C>T ENSP00000497812.1:p.Arg85Cys
ENST00000371083.4:c.307C>T ENSP00000360124.4:p.Arg103Cys
ENST00000371084.7:c.253C>T ENSP00000360125.3:p.Arg85Cys
ENST00000540265.5:c.-339C>T ENSP00000443449.1:n.-339C>T
NM_001172818.1:c.307C>T NP_001166289.1:p.Arg103Cys
NM_001172819.1:c.-339C>T NP_001166290.1:n.-339C>T
NM_002633.2:c.253C>T NP_002624.2:p.Arg85Cys
NM_002633.3:c.253C>T MANE Select NP_002624.2:p.Arg85Cys
NM_001172819.2:c.-339C>T NP_001166290.1:n.-339C>T
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