Canonical Allele Identifier: CA340645491

Gene: PGM1

Linked Data

• ClinVar Variation Id: 2394686
• ClinVar RCV Id: RCV002738917
• dbSNP Id: rs1649129027
• gnomAD v3: 1-63629437-G-A
• gnomAD v4: 1-63629437-G-A
• MyVariant Identifiers: chr1:g.64095108G>A (hg19) ; chr1:g.63629437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629437G>A , CM000663.2:g.63629437G>A	GRCh38
NC_000001.10:g.64095108G>A , CM000663.1:g.64095108G>A	GRCh37
NC_000001.9:g.63867696G>A	NCBI36
NG_016966.1:g.41162G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.259G>A MANE Select	ENSP00000360125.3:p.Val87Ile
ENST00000650546.1:c.259G>A	ENSP00000497812.1:p.Val87Ile
ENST00000371083.4:c.313G>A	ENSP00000360124.4:p.Val105Ile
ENST00000371084.7:c.259G>A	ENSP00000360125.3:p.Val87Ile
ENST00000540265.5:c.-333G>A	ENSP00000443449.1:n.-333G>A
NM_001172818.1:c.313G>A	NP_001166289.1:p.Val105Ile
NM_001172819.1:c.-333G>A	NP_001166290.1:n.-333G>A
NM_002633.2:c.259G>A	NP_002624.2:p.Val87Ile
NM_002633.3:c.259G>A MANE Select	NP_002624.2:p.Val87Ile
NM_001172819.2:c.-333G>A	NP_001166290.1:n.-333G>A