Canonical Allele Identifier: CA486376184

Gene: PYGL

Linked Data

• dbSNP Id: rs1596031933
• MyVariant Identifiers: chr14:g.51376816A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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