Canonical Allele Identifier: CA7183089

Gene: PYGL

Linked Data

• dbSNP Id: rs765038633
• ExAC: 14:51372147 G / A
• gnomAD v2: 14-51372147-G-A
• gnomAD v4: 14-50905429-G-A
• MyVariant Identifiers: chr14:g.51372147G>A (hg19) ; chr14:g.50905429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905429G>A , CM000676.2:g.50905429G>A	GRCh38
NC_000014.8:g.51372147G>A , CM000676.1:g.51372147G>A	GRCh37
NC_000014.7:g.50441897G>A	NCBI36
NG_012796.1:g.44102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2507C>T MANE Select	ENSP00000216392.7:p.Ser836Phe
ENST00000216392.7:c.2507C>T	ENSP00000216392.7:p.Ser836Phe
ENST00000532462.5:c.2379+2842C>T	ENSP00000431657.1:n.2379+2842C>T
ENST00000544180.6:c.2405C>T	ENSP00000443787.1:p.Ser802Phe
NM_001163940.1:c.2405C>T	NP_001157412.1:p.Ser802Phe
NM_002863.4:c.2507C>T	NP_002854.3:p.Ser836Phe
NM_002863.5:c.2507C>T MANE Select	NP_002854.3:p.Ser836Phe
NM_001163940.2:c.2405C>T	NP_001157412.1:p.Ser802Phe