Canonical Allele Identifier: CA340638463

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114314T>A (hg19) ; chr1:g.63648643T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648643T>A , CM000663.2:g.63648643T>A	GRCh38
NC_000001.10:g.64114314T>A , CM000663.1:g.64114314T>A	GRCh37
NC_000001.9:g.63886902T>A	NCBI36
NG_016966.1:g.60368T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1271T>A MANE Select	ENSP00000360125.3:p.Phe424Tyr
ENST00000650546.1:c.1271T>A	ENSP00000497812.1:p.Phe424Tyr
ENST00000371083.4:c.1325T>A	ENSP00000360124.4:p.Phe442Tyr
ENST00000371084.7:c.1271T>A	ENSP00000360125.3:p.Phe424Tyr
ENST00000540265.5:c.680T>A	ENSP00000443449.1:p.Phe227Tyr
NM_001172818.1:c.1325T>A	NP_001166289.1:p.Phe442Tyr
NM_001172819.1:c.680T>A	NP_001166290.1:p.Phe227Tyr
NM_002633.2:c.1271T>A	NP_002624.2:p.Phe424Tyr
NM_002633.3:c.1271T>A MANE Select	NP_002624.2:p.Phe424Tyr
NM_001172819.2:c.680T>A	NP_001166290.1:p.Phe227Tyr