Canonical Allele Identifier: CA409436514
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1186627076
gnomAD v4: 20-57564358-C-A
COSMIC: COSM389418
MyVariant Identifiers: chr20:g.56139414C>A (hg19) chr20:g.57564358C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564358C>A , CM000682.2:g.57564358C>A GRCh38
NC_000020.10:g.56139414C>A , CM000682.1:g.56139414C>A GRCh37
NC_000020.9:g.55572820C>A NCBI36
NG_008205.1:g.8278C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1151C>A MANE Select ENSP00000319814.4:p.Thr384Lys
ENST00000319441.5:c.1151C>A ENSP00000319814.4:p.Thr384Lys
ENST00000467047.1:n.3279C>A
ENST00000485958.1:n.275C>A
NM_002591.3:c.1151C>A NP_002582.3:p.Thr384Lys
XM_011528839.1:c.755C>A XP_011527141.1:p.Thr252Lys
XM_024451888.1:c.755C>A XP_024307656.1:p.Thr252Lys
NM_002591.4:c.1151C>A MANE Select NP_002582.3:p.Thr384Lys
Search 100 bp 5'
Search 100 bp 3'