Canonical Allele Identifier: CA486372587

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51372233A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905515A>G , CM000676.2:g.50905515A>G	GRCh38
NC_000014.8:g.51372233A>G , CM000676.1:g.51372233A>G	GRCh37
NC_000014.7:g.50441983A>G	NCBI36
NG_012796.1:g.44016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2421T>C MANE Select	ENSP00000216392.7:p.Ala807=
ENST00000216392.7:c.2421T>C	ENSP00000216392.7:p.Ala807=
ENST00000532462.5:c.2379+2756T>C	ENSP00000431657.1:n.2379+2756T>C
ENST00000544180.6:c.2319T>C	ENSP00000443787.1:p.Ala773=
NM_001163940.1:c.2319T>C	NP_001157412.1:p.Ala773=
NM_002863.4:c.2421T>C	NP_002854.3:p.Ala807=
NM_002863.5:c.2421T>C MANE Select	NP_002854.3:p.Ala807=
NM_001163940.2:c.2319T>C	NP_001157412.1:p.Ala773=