Canonical Allele Identifier: CA409436497
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564349T>A , CM000682.2:g.57564349T>A GRCh38
NC_000020.10:g.56139405T>A , CM000682.1:g.56139405T>A GRCh37
NC_000020.9:g.55572811T>A NCBI36
NG_008205.1:g.8269T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1142T>A MANE Select ENSP00000319814.4:p.Val381Asp
ENST00000319441.5:c.1142T>A ENSP00000319814.4:p.Val381Asp
ENST00000467047.1:n.3270T>A
ENST00000485958.1:n.266T>A
NM_002591.3:c.1142T>A NP_002582.3:p.Val381Asp
XM_011528839.1:c.746T>A XP_011527141.1:p.Val249Asp
XM_024451888.1:c.746T>A XP_024307656.1:p.Val249Asp
NM_002591.4:c.1142T>A MANE Select NP_002582.3:p.Val381Asp