Canonical Allele Identifier: CA486375716

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51376726T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910008T>G , CM000676.2:g.50910008T>G	GRCh38
NC_000014.8:g.51376726T>G , CM000676.1:g.51376726T>G	GRCh37
NC_000014.7:g.50446476T>G	NCBI36
NG_012796.1:g.39523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2064A>C MANE Select	ENSP00000216392.7:p.Leu688=
ENST00000216392.7:c.2064A>C	ENSP00000216392.7:p.Leu688=
ENST00000532107.2:n.237A>C
ENST00000532462.5:c.2064A>C	ENSP00000431657.1:p.Leu688=
ENST00000544180.6:c.1962A>C	ENSP00000443787.1:p.Leu654=
NM_001163940.1:c.1962A>C	NP_001157412.1:p.Leu654=
NM_002863.4:c.2064A>C	NP_002854.3:p.Leu688=
NM_002863.5:c.2064A>C MANE Select	NP_002854.3:p.Leu688=
NM_001163940.2:c.1962A>C	NP_001157412.1:p.Leu654=