Canonical Allele Identifier: CA486372447

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51372203T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905485T>A , CM000676.2:g.50905485T>A	GRCh38
NC_000014.8:g.51372203T>A , CM000676.1:g.51372203T>A	GRCh37
NC_000014.7:g.50441953T>A	NCBI36
NG_012796.1:g.44046A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2451A>T MANE Select	ENSP00000216392.7:p.Thr817=
ENST00000216392.7:c.2451A>T	ENSP00000216392.7:p.Thr817=
ENST00000532462.5:c.2379+2786A>T	ENSP00000431657.1:n.2379+2786A>T
ENST00000544180.6:c.2349A>T	ENSP00000443787.1:p.Thr783=
NM_001163940.1:c.2349A>T	NP_001157412.1:p.Thr783=
NM_002863.4:c.2451A>T	NP_002854.3:p.Thr817=
NM_002863.5:c.2451A>T MANE Select	NP_002854.3:p.Thr817=
NM_001163940.2:c.2349A>T	NP_001157412.1:p.Thr783=