Canonical Allele Identifier: CA389683161

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51378478C>G (hg19) ; chr14:g.50911760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911760C>G , CM000676.2:g.50911760C>G	GRCh38
NC_000014.8:g.51378478C>G , CM000676.1:g.51378478C>G	GRCh37
NC_000014.7:g.50448228C>G	NCBI36
NG_012796.1:g.37771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1939G>C MANE Select	ENSP00000216392.7:p.Glu647Gln
ENST00000216392.7:c.1939G>C	ENSP00000216392.7:p.Glu647Gln
ENST00000532107.2:n.112G>C
ENST00000532462.5:c.1939G>C	ENSP00000431657.1:p.Glu647Gln
ENST00000544180.6:c.1837G>C	ENSP00000443787.1:p.Glu613Gln
NM_001163940.1:c.1837G>C	NP_001157412.1:p.Glu613Gln
NM_002863.4:c.1939G>C	NP_002854.3:p.Glu647Gln
NM_002863.5:c.1939G>C MANE Select	NP_002854.3:p.Glu647Gln
NM_001163940.2:c.1837G>C	NP_001157412.1:p.Glu613Gln