Canonical Allele Identifier: CA486372803

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51372254T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905536T>G , CM000676.2:g.50905536T>G	GRCh38
NC_000014.8:g.51372254T>G , CM000676.1:g.51372254T>G	GRCh37
NC_000014.7:g.50442004T>G	NCBI36
NG_012796.1:g.43995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2400A>C MANE Select	ENSP00000216392.7:p.Thr800=
ENST00000216392.7:c.2400A>C	ENSP00000216392.7:p.Thr800=
ENST00000532462.5:c.2379+2735A>C	ENSP00000431657.1:n.2379+2735A>C
ENST00000544180.6:c.2298A>C	ENSP00000443787.1:p.Thr766=
NM_001163940.1:c.2298A>C	NP_001157412.1:p.Thr766=
NM_002863.4:c.2400A>C	NP_002854.3:p.Thr800=
NM_002863.5:c.2400A>C MANE Select	NP_002854.3:p.Thr800=
NM_001163940.2:c.2298A>C	NP_001157412.1:p.Thr766=