Canonical Allele Identifier: CA9922048
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1368065
ClinVar RCV Id: RCV001874319
dbSNP Id: rs761566552
ExAC: 20:56137869 G / A
gnomAD v2: 20-56137869-G-A
gnomAD v4: 20-57562813-G-A
COSMIC: COSM5057444 COSM5057445
MyVariant Identifiers: chr20:g.56137869G>A (hg19) chr20:g.57562813G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562813G>A , CM000682.2:g.57562813G>A GRCh38
NC_000020.10:g.56137869G>A , CM000682.1:g.56137869G>A GRCh37
NC_000020.9:g.55571275G>A NCBI36
NG_008205.1:g.6733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.524G>A MANE Select ENSP00000319814.4:p.Arg175Gln
ENST00000319441.5:c.524G>A ENSP00000319814.4:p.Arg175Gln
ENST00000467047.1:n.1734G>A
ENST00000498194.1:n.466G>A
NM_002591.3:c.524G>A NP_002582.3:p.Arg175Gln
XM_011528839.1:c.128G>A XP_011527141.1:p.Arg43Gln
XM_024451888.1:c.128G>A XP_024307656.1:p.Arg43Gln
NM_002591.4:c.524G>A MANE Select NP_002582.3:p.Arg175Gln
Search 100 bp 5'
Search 100 bp 3'