Canonical Allele Identifier: CA7183292
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1981942
ClinVar RCV Id: RCV002766501
dbSNP Id: rs755141133
ExAC: 14:51378515 G / C
gnomAD v2: 14-51378515-G-C
gnomAD v4: 14-50911797-G-C
MyVariant Identifiers: chr14:g.51378515G>C (hg19) chr14:g.50911797G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911797G>C , CM000676.2:g.50911797G>C GRCh38
NC_000014.8:g.51378515G>C , CM000676.1:g.51378515G>C GRCh37
NC_000014.7:g.50448265G>C NCBI36
NG_012796.1:g.37734C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1902C>G MANE Select ENSP00000216392.7:p.Asp634Glu
ENST00000216392.7:c.1902C>G ENSP00000216392.7:p.Asp634Glu
ENST00000532107.2:n.75C>G
ENST00000532462.5:c.1902C>G ENSP00000431657.1:p.Asp634Glu
ENST00000544180.6:c.1800C>G ENSP00000443787.1:p.Asp600Glu
NM_001163940.1:c.1800C>G NP_001157412.1:p.Asp600Glu
NM_002863.4:c.1902C>G NP_002854.3:p.Asp634Glu
NM_002863.5:c.1902C>G MANE Select NP_002854.3:p.Asp634Glu
NM_001163940.2:c.1800C>G NP_001157412.1:p.Asp600Glu
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