Canonical Allele Identifier: CA7183864
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs745759372

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937834C>A , CM000676.2:g.50937834C>A GRCh38
NC_000014.8:g.51404552C>A , CM000676.1:g.51404552C>A GRCh37
NC_000014.7:g.50474302C>A NCBI36
NG_012796.1:g.11697G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.247G>T MANE Select ENSP00000216392.7:p.Val83Leu
ENST00000216392.7:c.247G>T ENSP00000216392.7:p.Val83Leu
ENST00000530336.2:n.314G>T
ENST00000532462.5:c.247G>T ENSP00000431657.1:p.Val83Leu
ENST00000544180.6:c.244-2649G>T ENSP00000443787.1:n.244-2649G>T
NM_001163940.1:c.244-2649G>T NP_001157412.1:n.244-2649G>T
NM_002863.4:c.247G>T NP_002854.3:p.Val83Leu
NM_002863.5:c.247G>T MANE Select NP_002854.3:p.Val83Leu
NM_001163940.2:c.244-2649G>T NP_001157412.1:n.244-2649G>T