Canonical Allele Identifier: CA389687135

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51381475T>C (hg19) ; chr14:g.50914757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50914757T>C , CM000676.2:g.50914757T>C	GRCh38
NC_000014.8:g.51381475T>C , CM000676.1:g.51381475T>C	GRCh37
NC_000014.7:g.50451225T>C	NCBI36
NG_012796.1:g.34774A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1462A>G MANE Select	ENSP00000216392.7:p.Thr488Ala
ENST00000216392.7:c.1462A>G	ENSP00000216392.7:p.Thr488Ala
ENST00000532462.5:c.1462A>G	ENSP00000431657.1:p.Thr488Ala
ENST00000544180.6:c.1360A>G	ENSP00000443787.1:p.Thr454Ala
NM_001163940.1:c.1360A>G	NP_001157412.1:p.Thr454Ala
NM_002863.4:c.1462A>G	NP_002854.3:p.Thr488Ala
NM_002863.5:c.1462A>G MANE Select	NP_002854.3:p.Thr488Ala
NM_001163940.2:c.1360A>G	NP_001157412.1:p.Thr454Ala