Canonical Allele Identifier: CA340645471

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64095105T>A (hg19) ; chr1:g.63629434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629434T>A , CM000663.2:g.63629434T>A	GRCh38
NC_000001.10:g.64095105T>A , CM000663.1:g.64095105T>A	GRCh37
NC_000001.9:g.63867693T>A	NCBI36
NG_016966.1:g.41159T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.256T>A MANE Select	ENSP00000360125.3:p.Leu86Met
ENST00000650546.1:c.256T>A	ENSP00000497812.1:p.Leu86Met
ENST00000371083.4:c.310T>A	ENSP00000360124.4:p.Leu104Met
ENST00000371084.7:c.256T>A	ENSP00000360125.3:p.Leu86Met
ENST00000540265.5:c.-336T>A	ENSP00000443449.1:n.-336T>A
NM_001172818.1:c.310T>A	NP_001166289.1:p.Leu104Met
NM_001172819.1:c.-336T>A	NP_001166290.1:n.-336T>A
NM_002633.2:c.256T>A	NP_002624.2:p.Leu86Met
NM_002633.3:c.256T>A MANE Select	NP_002624.2:p.Leu86Met
NM_001172819.2:c.-336T>A	NP_001166290.1:n.-336T>A