Canonical Allele Identifier: CA7183226
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1029650
ClinVar RCV Id: RCV001330994
dbSNP Id: rs368758632
ExAC: 14:51376707 C / T
gnomAD v2: 14-51376707-C-T
gnomAD v3: 14-50909989-C-T
gnomAD v4: 14-50909989-C-T
MyVariant Identifiers: chr14:g.51376707C>T (hg19) chr14:g.50909989C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50909989C>T , CM000676.2:g.50909989C>T GRCh38
NC_000014.8:g.51376707C>T , CM000676.1:g.51376707C>T GRCh37
NC_000014.7:g.50446457C>T NCBI36
NG_012796.1:g.39542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2083G>A MANE Select ENSP00000216392.7:p.Gly695Arg
ENST00000216392.7:c.2083G>A ENSP00000216392.7:p.Gly695Arg
ENST00000532107.2:n.256G>A
ENST00000532462.5:c.2083G>A ENSP00000431657.1:p.Gly695Arg
ENST00000544180.6:c.1981G>A ENSP00000443787.1:p.Gly661Arg
NM_001163940.1:c.1981G>A NP_001157412.1:p.Gly661Arg
NM_002863.4:c.2083G>A NP_002854.3:p.Gly695Arg
NM_002863.5:c.2083G>A MANE Select NP_002854.3:p.Gly695Arg
NM_001163940.2:c.1981G>A NP_001157412.1:p.Gly661Arg
Search 100 bp 5'
Search 100 bp 3'