Canonical Allele Identifier: CA389697837
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937819G>C , CM000676.2:g.50937819G>C GRCh38
NC_000014.8:g.51404537G>C , CM000676.1:g.51404537G>C GRCh37
NC_000014.7:g.50474287G>C NCBI36
NG_012796.1:g.11712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.262C>G MANE Select ENSP00000216392.7:p.Leu88Val
ENST00000216392.7:c.262C>G ENSP00000216392.7:p.Leu88Val
ENST00000530336.2:n.329C>G
ENST00000532462.5:c.262C>G ENSP00000431657.1:p.Leu88Val
ENST00000544180.6:c.244-2634C>G ENSP00000443787.1:n.244-2634C>G
NM_001163940.1:c.244-2634C>G NP_001157412.1:n.244-2634C>G
NM_002863.4:c.262C>G NP_002854.3:p.Leu88Val
NM_002863.5:c.262C>G MANE Select NP_002854.3:p.Leu88Val
NM_001163940.2:c.244-2634C>G NP_001157412.1:n.244-2634C>G