Canonical Allele Identifier: CA889757

Gene: PGM1

Linked Data

• ClinVar Variation Id: 1627464
• ClinVar RCV Id: RCV002132927
• dbSNP Id: rs779705334
• ExAC: 1:64114213 T / C
• gnomAD v2: 1-64114213-T-C
• gnomAD v3: 1-63648542-T-C
• gnomAD v4: 1-63648542-T-C
• MyVariant Identifiers: chr1:g.64114213T>C (hg19) ; chr1:g.63648542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648542T>C , CM000663.2:g.63648542T>C	GRCh38
NC_000001.10:g.64114213T>C , CM000663.1:g.64114213T>C	GRCh37
NC_000001.9:g.63886801T>C	NCBI36
NG_016966.1:g.60267T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1170T>C MANE Select	ENSP00000360125.3:p.Asp390=
ENST00000650546.1:c.1170T>C	ENSP00000497812.1:p.Asp390=
ENST00000371083.4:c.1224T>C	ENSP00000360124.4:p.Asp408=
ENST00000371084.7:c.1170T>C	ENSP00000360125.3:p.Asp390=
ENST00000540265.5:c.579T>C	ENSP00000443449.1:p.Asp193=
NM_001172818.1:c.1224T>C	NP_001166289.1:p.Asp408=
NM_001172819.1:c.579T>C	NP_001166290.1:p.Asp193=
NM_002633.2:c.1170T>C	NP_002624.2:p.Asp390=
NM_002633.3:c.1170T>C MANE Select	NP_002624.2:p.Asp390=
NM_001172819.2:c.579T>C	NP_001166290.1:p.Asp193=