Canonical Allele Identifier: CA389682643

Gene: PYGL

Linked Data

• gnomAD v4: 14-50910063-G-T
• MyVariant Identifiers: chr14:g.51376781G>T (hg19) ; chr14:g.50910063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910063G>T , CM000676.2:g.50910063G>T	GRCh38
NC_000014.8:g.51376781G>T , CM000676.1:g.51376781G>T	GRCh37
NC_000014.7:g.50446531G>T	NCBI36
NG_012796.1:g.39468C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2009C>A MANE Select	ENSP00000216392.7:p.Ala670Glu
ENST00000216392.7:c.2009C>A	ENSP00000216392.7:p.Ala670Glu
ENST00000532107.2:n.182C>A
ENST00000532462.5:c.2009C>A	ENSP00000431657.1:p.Ala670Glu
ENST00000544180.6:c.1907C>A	ENSP00000443787.1:p.Ala636Glu
NM_001163940.1:c.1907C>A	NP_001157412.1:p.Ala636Glu
NM_002863.4:c.2009C>A	NP_002854.3:p.Ala670Glu
NM_002863.5:c.2009C>A MANE Select	NP_002854.3:p.Ala670Glu
NM_001163940.2:c.1907C>A	NP_001157412.1:p.Ala636Glu