Canonical Allele Identifier: CA340636216

Gene: PGM1

Linked Data

• ClinVar Variation Id: 471070
• ClinVar RCV Id: RCV000537665 ; RCV003324765
• dbSNP Id: rs1553121290
• MyVariant Identifiers: chr1:g.64102045T>A (hg19) ; chr1:g.63636374T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63636374T>A , CM000663.2:g.63636374T>A	GRCh38
NC_000001.10:g.64102045T>A , CM000663.1:g.64102045T>A	GRCh37
NC_000001.9:g.63874633T>A	NCBI36
NG_016966.1:g.48099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1014T>A MANE Select	ENSP00000360125.3:p.Ser338Arg
ENST00000650546.1:c.1014T>A	ENSP00000497812.1:p.Ser338Arg
ENST00000371083.4:c.1068T>A	ENSP00000360124.4:p.Ser356Arg
ENST00000371084.7:c.1014T>A	ENSP00000360125.3:p.Ser338Arg
ENST00000540265.5:c.423T>A	ENSP00000443449.1:p.Ser141Arg
NM_001172818.1:c.1068T>A	NP_001166289.1:p.Ser356Arg
NM_001172819.1:c.423T>A	NP_001166290.1:p.Ser141Arg
NM_002633.2:c.1014T>A	NP_002624.2:p.Ser338Arg
NM_002633.3:c.1014T>A MANE Select	NP_002624.2:p.Ser338Arg
NM_001172819.2:c.423T>A	NP_001166290.1:p.Ser141Arg