Canonical Allele Identifier: CA389699290
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944214G>C , CM000676.2:g.50944214G>C GRCh38
NC_000014.8:g.51410932G>C , CM000676.1:g.51410932G>C GRCh37
NC_000014.7:g.50480682G>C NCBI36
NG_012796.1:g.5317C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.190C>G MANE Select ENSP00000216392.7:p.Leu64Val
ENST00000216392.7:c.190C>G ENSP00000216392.7:p.Leu64Val
ENST00000530336.2:n.257C>G
ENST00000532462.5:c.190C>G ENSP00000431657.1:p.Leu64Val
ENST00000544180.6:c.190C>G ENSP00000443787.1:p.Leu64Val
NM_001163940.1:c.190C>G NP_001157412.1:p.Leu64Val
NM_002863.4:c.190C>G NP_002854.3:p.Leu64Val
NM_002863.5:c.190C>G MANE Select NP_002854.3:p.Leu64Val
NM_001163940.2:c.190C>G NP_001157412.1:p.Leu64Val