Canonical Allele Identifier: CA389682040

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51376650T>G (hg19) ; chr14:g.50909932T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909932T>G , CM000676.2:g.50909932T>G	GRCh38
NC_000014.8:g.51376650T>G , CM000676.1:g.51376650T>G	GRCh37
NC_000014.7:g.50446400T>G	NCBI36
NG_012796.1:g.39599A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2140A>C MANE Select	ENSP00000216392.7:p.Met714Leu
ENST00000216392.7:c.2140A>C	ENSP00000216392.7:p.Met714Leu
ENST00000532107.2:n.313A>C
ENST00000532462.5:c.2140A>C	ENSP00000431657.1:p.Met714Leu
ENST00000544180.6:c.2038A>C	ENSP00000443787.1:p.Met680Leu
NM_001163940.1:c.2038A>C	NP_001157412.1:p.Met680Leu
NM_002863.4:c.2140A>C	NP_002854.3:p.Met714Leu
NM_002863.5:c.2140A>C MANE Select	NP_002854.3:p.Met714Leu
NM_001163940.2:c.2038A>C	NP_001157412.1:p.Met680Leu