Canonical Allele Identifier: CA409437207
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565393T>A , CM000682.2:g.57565393T>A GRCh38
NC_000020.10:g.56140449T>A , CM000682.1:g.56140449T>A GRCh37
NC_000020.9:g.55573855T>A NCBI36
NG_008205.1:g.9313T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1458T>A MANE Select ENSP00000319814.4:p.Phe486Leu
ENST00000319441.5:c.1458T>A ENSP00000319814.4:p.Phe486Leu
ENST00000467047.1:n.4100T>A
NM_002591.3:c.1458T>A NP_002582.3:p.Phe486Leu
XM_011528839.1:c.1062T>A XP_011527141.1:p.Phe354Leu
XM_024451888.1:c.1062T>A XP_024307656.1:p.Phe354Leu
NM_002591.4:c.1458T>A MANE Select NP_002582.3:p.Phe486Leu