Canonical Allele Identifier: CA389699466

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51410971C>T (hg19) ; chr14:g.50944253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944253C>T , CM000676.2:g.50944253C>T	GRCh38
NC_000014.8:g.51410971C>T , CM000676.1:g.51410971C>T	GRCh37
NC_000014.7:g.50480721C>T	NCBI36
NG_012796.1:g.5278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.151G>A MANE Select	ENSP00000216392.7:p.Asp51Asn
ENST00000216392.7:c.151G>A	ENSP00000216392.7:p.Asp51Asn
ENST00000530336.2:n.218G>A
ENST00000532462.5:c.151G>A	ENSP00000431657.1:p.Asp51Asn
ENST00000544180.6:c.151G>A	ENSP00000443787.1:p.Asp51Asn
NM_001163940.1:c.151G>A	NP_001157412.1:p.Asp51Asn
NM_002863.4:c.151G>A	NP_002854.3:p.Asp51Asn
NM_002863.5:c.151G>A MANE Select	NP_002854.3:p.Asp51Asn
NM_001163940.2:c.151G>A	NP_001157412.1:p.Asp51Asn