Canonical Allele Identifier: CA9922454
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338895
ClinVar RCV Id: RCV000381354 RCV000949099
dbSNP Id: rs34103538
ExAC: 20:56140726 A / C
gnomAD v2: 20-56140726-A-C
gnomAD v3: 20-57565670-A-C
gnomAD v4: 20-57565670-A-C
MyVariant Identifiers: chr20:g.56140726A>C (hg19) chr20:g.57565670A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565670A>C , CM000682.2:g.57565670A>C GRCh38
NC_000020.10:g.56140726A>C , CM000682.1:g.56140726A>C GRCh37
NC_000020.9:g.55574132A>C NCBI36
NG_008205.1:g.9590A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1735A>C MANE Select ENSP00000319814.4:p.Ser579Arg
ENST00000319441.5:c.1735A>C ENSP00000319814.4:p.Ser579Arg
ENST00000467047.1:n.4377A>C
NM_002591.3:c.1735A>C NP_002582.3:p.Ser579Arg
XM_011528839.1:c.1339A>C XP_011527141.1:p.Ser447Arg
XM_024451888.1:c.1339A>C XP_024307656.1:p.Ser447Arg
NM_002591.4:c.1735A>C MANE Select NP_002582.3:p.Ser579Arg
Search 100 bp 5'
Search 100 bp 3'