Canonical Allele Identifier: CA9922429
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2193726
ClinVar RCV Id: RCV002612325
dbSNP Id: rs748289347
ExAC: 20:56140583 G / A
gnomAD v2: 20-56140583-G-A
gnomAD v3: 20-57565527-G-A
gnomAD v4: 20-57565527-G-A
MyVariant Identifiers: chr20:g.56140583G>A (hg19) chr20:g.57565527G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565527G>A , CM000682.2:g.57565527G>A GRCh38
NC_000020.10:g.56140583G>A , CM000682.1:g.56140583G>A GRCh37
NC_000020.9:g.55573989G>A NCBI36
NG_008205.1:g.9447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1592G>A MANE Select ENSP00000319814.4:p.Gly531Glu
ENST00000319441.5:c.1592G>A ENSP00000319814.4:p.Gly531Glu
ENST00000467047.1:n.4234G>A
NM_002591.3:c.1592G>A NP_002582.3:p.Gly531Glu
XM_011528839.1:c.1196G>A XP_011527141.1:p.Gly399Glu
XM_024451888.1:c.1196G>A XP_024307656.1:p.Gly399Glu
NM_002591.4:c.1592G>A MANE Select NP_002582.3:p.Gly531Glu
Search 100 bp 5'
Search 100 bp 3'