Canonical Allele Identifier: CA341170
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 11993
ClinVar RCV Id: RCV000012773
dbSNP Id: rs113993974

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50924101C>G , CM000676.2:g.50924101C>G GRCh38
NC_000014.8:g.51390819C>G , CM000676.1:g.51390819C>G GRCh37
NC_000014.7:g.50460569C>G NCBI36
NG_012796.1:g.25430G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.529-1G>C MANE Select ENSP00000216392.7:n.529-1G>C
ENST00000216392.7:c.529-1G>C ENSP00000216392.7:n.529-1G>C
ENST00000530336.2:n.596-1G>C
ENST00000532462.5:c.529-1G>C ENSP00000431657.1:n.529-1G>C
ENST00000544180.6:c.427-1G>C ENSP00000443787.1:n.427-1G>C
NM_001163940.1:c.427-1G>C NP_001157412.1:n.427-1G>C
NM_002863.4:c.529-1G>C NP_002854.3:n.529-1G>C
NM_002863.5:c.529-1G>C MANE Select NP_002854.3:n.529-1G>C
NM_001163940.2:c.427-1G>C NP_001157412.1:n.427-1G>C