Canonical Allele Identifier: CA389678915

Gene: PYGL

Linked Data

• gnomAD v4: 14-50905454-C-G
• MyVariant Identifiers: chr14:g.51372172C>G (hg19) ; chr14:g.50905454C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905454C>G , CM000676.2:g.50905454C>G	GRCh38
NC_000014.8:g.51372172C>G , CM000676.1:g.51372172C>G	GRCh37
NC_000014.7:g.50441922C>G	NCBI36
NG_012796.1:g.44077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2482G>C MANE Select	ENSP00000216392.7:p.Val828Leu
ENST00000216392.7:c.2482G>C	ENSP00000216392.7:p.Val828Leu
ENST00000532462.5:c.2379+2817G>C	ENSP00000431657.1:n.2379+2817G>C
ENST00000544180.6:c.2380G>C	ENSP00000443787.1:p.Val794Leu
NM_001163940.1:c.2380G>C	NP_001157412.1:p.Val794Leu
NM_002863.4:c.2482G>C	NP_002854.3:p.Val828Leu
NM_002863.5:c.2482G>C MANE Select	NP_002854.3:p.Val828Leu
NM_001163940.2:c.2380G>C	NP_001157412.1:p.Val794Leu