Canonical Allele Identifier: CA340639619

Gene: PGM1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63654414T>G , CM000663.2:g.63654414T>G	GRCh38
NC_000001.10:g.64120085T>G , CM000663.1:g.64120085T>G	GRCh37
NC_000001.9:g.63892673T>G	NCBI36
NG_016966.1:g.66139T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1547T>G MANE Select	ENSP00000360125.3:p.Leu516Arg
ENST00000650546.1:c.1547T>G	ENSP00000497812.1:p.Leu516Arg
ENST00000371083.4:c.1601T>G	ENSP00000360124.4:p.Leu534Arg
ENST00000371084.7:c.1547T>G	ENSP00000360125.3:p.Leu516Arg
ENST00000483707.1:n.581T>G
ENST00000540265.5:c.956T>G	ENSP00000443449.1:p.Leu319Arg
NM_001172818.1:c.1601T>G	NP_001166289.1:p.Leu534Arg
NM_001172819.1:c.956T>G	NP_001166290.1:p.Leu319Arg
NM_002633.2:c.1547T>G	NP_002624.2:p.Leu516Arg
NM_002633.3:c.1547T>G MANE Select	NP_002624.2:p.Leu516Arg
NM_001172819.2:c.956T>G	NP_001166290.1:p.Leu319Arg