Canonical Allele Identifier: CA486376181

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51376816A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910098A>T , CM000676.2:g.50910098A>T	GRCh38
NC_000014.8:g.51376816A>T , CM000676.1:g.51376816A>T	GRCh37
NC_000014.7:g.50446566A>T	NCBI36
NG_012796.1:g.39433T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1974T>A MANE Select	ENSP00000216392.7:p.Ile658=
ENST00000216392.7:c.1974T>A	ENSP00000216392.7:p.Ile658=
ENST00000532107.2:n.147T>A
ENST00000532462.5:c.1974T>A	ENSP00000431657.1:p.Ile658=
ENST00000544180.6:c.1872T>A	ENSP00000443787.1:p.Ile624=
NM_001163940.1:c.1872T>A	NP_001157412.1:p.Ile624=
NM_002863.4:c.1974T>A	NP_002854.3:p.Ile658=
NM_002863.5:c.1974T>A MANE Select	NP_002854.3:p.Ile658=
NM_001163940.2:c.1872T>A	NP_001157412.1:p.Ile624=