Canonical Allele Identifier: CA9922441
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338893
ClinVar RCV Id: RCV000267912
dbSNP Id: rs762446688
ExAC: 20:56140649 C / T
gnomAD v2: 20-56140649-C-T
gnomAD v4: 20-57565593-C-T
COSMIC: COSM5614801
MyVariant Identifiers: chr20:g.56140649C>T (hg19) chr20:g.57565593C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565593C>T , CM000682.2:g.57565593C>T GRCh38
NC_000020.10:g.56140649C>T , CM000682.1:g.56140649C>T GRCh37
NC_000020.9:g.55574055C>T NCBI36
NG_008205.1:g.9513C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1658C>T MANE Select ENSP00000319814.4:p.Thr553Met
ENST00000319441.5:c.1658C>T ENSP00000319814.4:p.Thr553Met
ENST00000467047.1:n.4300C>T
NM_002591.3:c.1658C>T NP_002582.3:p.Thr553Met
XM_011528839.1:c.1262C>T XP_011527141.1:p.Thr421Met
XM_024451888.1:c.1262C>T XP_024307656.1:p.Thr421Met
NM_002591.4:c.1658C>T MANE Select NP_002582.3:p.Thr553Met
Search 100 bp 5'
Search 100 bp 3'