Canonical Allele Identifier: CA486372464

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51372206T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905488T>A , CM000676.2:g.50905488T>A	GRCh38
NC_000014.8:g.51372206T>A , CM000676.1:g.51372206T>A	GRCh37
NC_000014.7:g.50441956T>A	NCBI36
NG_012796.1:g.44043A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2448A>T MANE Select	ENSP00000216392.7:p.Arg816=
ENST00000216392.7:c.2448A>T	ENSP00000216392.7:p.Arg816=
ENST00000532462.5:c.2379+2783A>T	ENSP00000431657.1:n.2379+2783A>T
ENST00000544180.6:c.2346A>T	ENSP00000443787.1:p.Arg782=
NM_001163940.1:c.2346A>T	NP_001157412.1:p.Arg782=
NM_002863.4:c.2448A>T	NP_002854.3:p.Arg816=
NM_002863.5:c.2448A>T MANE Select	NP_002854.3:p.Arg816=
NM_001163940.2:c.2346A>T	NP_001157412.1:p.Arg782=