Canonical Allele Identifier: CA7183442
Gene: PYGL HGNC NCBI
ClinVar RCV:
RCV000391908
ClinVar Variation:
313325
dbSNP:
372886463
gnomAD v2:
14:51379863 G / T
gnomAD v3:
14:50913145 G / T
gnomAD v4:
chr14-50913145-G-T
Joint Max Group AF 0.00003672 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003551 (NFE)
MyVariant.info:
GRCh38 chr14:g.50913145G>T
GRCh37 chr14:g.51379863G>T
GRCh37 chr14:g.51379863_51379864delinsTA
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50913145G>T , CM000676.2:g.50913145G>T GRCh38
NC_000014.8:g.51379863G>T , CM000676.1:g.51379863G>T GRCh37
NC_000014.7:g.50449613G>T NCBI36
NG_012796.1:g.36386C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1519-15C>A MANE Select ENSP00000216392.7:n.1519-15C>A
ENST00000216392.7:c.1519-15C>A ENSP00000216392.7:n.1519-15C>A
ENST00000532462.5:c.1519-15C>A ENSP00000431657.1:n.1519-15C>A
ENST00000544180.6:c.1417-15C>A ENSP00000443787.1:n.1417-15C>A
NM_001163940.1:c.1417-15C>A NP_001157412.1:n.1417-15C>A
NM_002863.4:c.1519-15C>A NP_002854.3:n.1519-15C>A
NM_002863.5:c.1519-15C>A MANE Select NP_002854.3:n.1519-15C>A
NM_001163940.2:c.1417-15C>A NP_001157412.1:n.1417-15C>A
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