Canonical Allele Identifier: CA260818722
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 882388
ClinVar RCV Id: RCV001112045
dbSNP Id: rs190588867
gnomAD v2: 14-51372032-C-T
gnomAD v3: 14-50905314-C-T
gnomAD v4: 14-50905314-C-T
MyVariant Identifiers: chr14:g.51372032C>T (hg19) chr14:g.50905314C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905314C>T , CM000676.2:g.50905314C>T GRCh38
NC_000014.8:g.51372032C>T , CM000676.1:g.51372032C>T GRCh37
NC_000014.7:g.50441782C>T NCBI36
NG_012796.1:g.44217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*78G>A MANE Select ENSP00000216392.7:n.*78G>A
ENST00000216392.7:c.*78G>A ENSP00000216392.7:n.*78G>A
ENST00000532462.5:c.2379+2957G>A ENSP00000431657.1:n.2379+2957G>A
ENST00000544180.6:c.*78G>A ENSP00000443787.1:n.*78G>A
NM_001163940.1:c.*78G>A NP_001157412.1:n.*78G>A
NM_002863.4:c.*78G>A NP_002854.3:n.*78G>A
NM_002863.5:c.*78G>A MANE Select NP_002854.3:n.*78G>A
NM_001163940.2:c.*78G>A NP_001157412.1:n.*78G>A
Search 100 bp 5'
Search 100 bp 3'