Canonical Allele Identifier: CA889756
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313936
ClinVar RCV Id: RCV001771167 RCV001885053 RCV003365448
dbSNP Id: rs548040301
ExAC: 1:64114203 G / A
gnomAD v2: 1-64114203-G-A
gnomAD v3: 1-63648532-G-A
gnomAD v4: 1-63648532-G-A
MyVariant Identifiers: chr1:g.64114203G>A (hg19) chr1:g.63648532G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63648532G>A , CM000663.2:g.63648532G>A GRCh38
NC_000001.10:g.64114203G>A , CM000663.1:g.64114203G>A GRCh37
NC_000001.9:g.63886791G>A NCBI36
NG_016966.1:g.60257G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.1160G>A MANE Select ENSP00000360125.3:p.Arg387His
ENST00000650546.1:c.1160G>A ENSP00000497812.1:p.Arg387His
ENST00000371083.4:c.1214G>A ENSP00000360124.4:p.Arg405His
ENST00000371084.7:c.1160G>A ENSP00000360125.3:p.Arg387His
ENST00000540265.5:c.569G>A ENSP00000443449.1:p.Arg190His
NM_001172818.1:c.1214G>A NP_001166289.1:p.Arg405His
NM_001172819.1:c.569G>A NP_001166290.1:p.Arg190His
NM_002633.2:c.1160G>A NP_002624.2:p.Arg387His
NM_002633.3:c.1160G>A MANE Select NP_002624.2:p.Arg387His
NM_001172819.2:c.569G>A NP_001166290.1:p.Arg190His
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Search 100 bp 3'