Canonical Allele Identifier: CA9922404
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs756706610
ExAC: 20:56140441 C / A
gnomAD v2: 20-56140441-C-A
gnomAD v4: 20-57565385-C-A
MyVariant Identifiers: chr20:g.56140441C>A (hg19) chr20:g.57565385C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565385C>A , CM000682.2:g.57565385C>A GRCh38
NC_000020.10:g.56140441C>A , CM000682.1:g.56140441C>A GRCh37
NC_000020.9:g.55573847C>A NCBI36
NG_008205.1:g.9305C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1450C>A MANE Select ENSP00000319814.4:p.Pro484Thr
ENST00000319441.5:c.1450C>A ENSP00000319814.4:p.Pro484Thr
ENST00000467047.1:n.4092C>A
ENST00000485958.1:n.574C>A
NM_002591.3:c.1450C>A NP_002582.3:p.Pro484Thr
XM_011528839.1:c.1054C>A XP_011527141.1:p.Pro352Thr
XM_024451888.1:c.1054C>A XP_024307656.1:p.Pro352Thr
NM_002591.4:c.1450C>A MANE Select NP_002582.3:p.Pro484Thr
Search 100 bp 5'
Search 100 bp 3'