Canonical Allele Identifier: CA7183751
Gene: PYGL HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.50924018T>C
GRCh37 chr14:g.51390736T>C
Revel Score:
ENST00000532462 0.794
ENST00000544180 0.794
ENST00000216392 (MANE Select) 0.794
gnomAD v2:
14:51390736 T / C
gnomAD v3:
14:50924018 T / C
gnomAD v4:
chr14-50924018-T-C
Joint Max Group AF 0.00340492 (NFE)
Genomes Max Group AF 0.00285545 (NFE)
Exomes Max Group AF 0.00342003 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50924018T>C , CM000676.2:g.50924018T>C GRCh38
NC_000014.8:g.51390736T>C , CM000676.1:g.51390736T>C GRCh37
NC_000014.7:g.50460486T>C NCBI36
NG_012796.1:g.25513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.611A>G MANE Select ENSP00000216392.7:p.Tyr204Cys
ENST00000216392.7:c.611A>G ENSP00000216392.7:p.Tyr204Cys
ENST00000530336.2:n.678A>G
ENST00000532462.5:c.611A>G ENSP00000431657.1:p.Tyr204Cys
ENST00000544180.6:c.509A>G ENSP00000443787.1:p.Tyr170Cys
NM_001163940.1:c.509A>G NP_001157412.1:p.Tyr170Cys
NM_002863.4:c.611A>G NP_002854.3:p.Tyr204Cys
NM_002863.5:c.611A>G MANE Select NP_002854.3:p.Tyr204Cys
NM_001163940.2:c.509A>G NP_001157412.1:p.Tyr170Cys
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