Canonical Allele Identifier: CA389699230
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2460963
ClinVar RCV Id: RCV003179495
dbSNP Id: rs1255344147
gnomAD v2: 14-51410917-T-C
gnomAD v3: 14-50944199-T-C
gnomAD v4: 14-50944199-T-C
MyVariant Identifiers: chr14:g.51410917T>C (hg19) chr14:g.50944199T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944199T>C , CM000676.2:g.50944199T>C GRCh38
NC_000014.8:g.51410917T>C , CM000676.1:g.51410917T>C GRCh37
NC_000014.7:g.50480667T>C NCBI36
NG_012796.1:g.5332A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.205A>G MANE Select ENSP00000216392.7:p.Ile69Val
ENST00000216392.7:c.205A>G ENSP00000216392.7:p.Ile69Val
ENST00000530336.2:n.272A>G
ENST00000532462.5:c.205A>G ENSP00000431657.1:p.Ile69Val
ENST00000544180.6:c.205A>G ENSP00000443787.1:p.Ile69Val
NM_001163940.1:c.205A>G NP_001157412.1:p.Ile69Val
NM_002863.4:c.205A>G NP_002854.3:p.Ile69Val
NM_002863.5:c.205A>G MANE Select NP_002854.3:p.Ile69Val
NM_001163940.2:c.205A>G NP_001157412.1:p.Ile69Val
Search 100 bp 5'
Search 100 bp 3'