Canonical Allele Identifier: CA7183091
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 313318
ClinVar RCV Id: RCV000263586
dbSNP Id: rs755274555
ExAC: 14:51372173 G / A
gnomAD v2: 14-51372173-G-A
gnomAD v4: 14-50905455-G-A
MyVariant Identifiers: chr14:g.51372173G>A (hg19) chr14:g.50905455G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905455G>A , CM000676.2:g.50905455G>A GRCh38
NC_000014.8:g.51372173G>A , CM000676.1:g.51372173G>A GRCh37
NC_000014.7:g.50441923G>A NCBI36
NG_012796.1:g.44076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2481C>T MANE Select ENSP00000216392.7:p.Asn827=
ENST00000216392.7:c.2481C>T ENSP00000216392.7:p.Asn827=
ENST00000532462.5:c.2379+2816C>T ENSP00000431657.1:n.2379+2816C>T
ENST00000544180.6:c.2379C>T ENSP00000443787.1:p.Asn793=
NM_001163940.1:c.2379C>T NP_001157412.1:p.Asn793=
NM_002863.4:c.2481C>T NP_002854.3:p.Asn827=
NM_002863.5:c.2481C>T MANE Select NP_002854.3:p.Asn827=
NM_001163940.2:c.2379C>T NP_001157412.1:p.Asn793=
Search 100 bp 5'
Search 100 bp 3'