Canonical Allele Identifier: CA389699411

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51410961A>T (hg19) ; chr14:g.50944243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944243A>T , CM000676.2:g.50944243A>T	GRCh38
NC_000014.8:g.51410961A>T , CM000676.1:g.51410961A>T	GRCh37
NC_000014.7:g.50480711A>T	NCBI36
NG_012796.1:g.5288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.161T>A MANE Select	ENSP00000216392.7:p.Phe54Tyr
ENST00000216392.7:c.161T>A	ENSP00000216392.7:p.Phe54Tyr
ENST00000530336.2:n.228T>A
ENST00000532462.5:c.161T>A	ENSP00000431657.1:p.Phe54Tyr
ENST00000544180.6:c.161T>A	ENSP00000443787.1:p.Phe54Tyr
NM_001163940.1:c.161T>A	NP_001157412.1:p.Phe54Tyr
NM_002863.4:c.161T>A	NP_002854.3:p.Phe54Tyr
NM_002863.5:c.161T>A MANE Select	NP_002854.3:p.Phe54Tyr
NM_001163940.2:c.161T>A	NP_001157412.1:p.Phe54Tyr