Canonical Allele Identifier: CA389699079
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944165G>A , CM000676.2:g.50944165G>A GRCh38
NC_000014.8:g.51410883G>A , CM000676.1:g.51410883G>A GRCh37
NC_000014.7:g.50480633G>A NCBI36
NG_012796.1:g.5366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.239C>T MANE Select ENSP00000216392.7:p.Pro80Leu
ENST00000216392.7:c.239C>T ENSP00000216392.7:p.Pro80Leu
ENST00000530336.2:n.306C>T
ENST00000532462.5:c.239C>T ENSP00000431657.1:p.Pro80Leu
ENST00000544180.6:c.239C>T ENSP00000443787.1:p.Pro80Leu
NM_001163940.1:c.239C>T NP_001157412.1:p.Pro80Leu
NM_002863.4:c.239C>T NP_002854.3:p.Pro80Leu
NM_002863.5:c.239C>T MANE Select NP_002854.3:p.Pro80Leu
NM_001163940.2:c.239C>T NP_001157412.1:p.Pro80Leu