Canonical Allele Identifier: CA409437204
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565392T>G , CM000682.2:g.57565392T>G GRCh38
NC_000020.10:g.56140448T>G , CM000682.1:g.56140448T>G GRCh37
NC_000020.9:g.55573854T>G NCBI36
NG_008205.1:g.9312T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1457T>G MANE Select ENSP00000319814.4:p.Phe486Cys
ENST00000319441.5:c.1457T>G ENSP00000319814.4:p.Phe486Cys
ENST00000467047.1:n.4099T>G
ENST00000485958.1:n.581T>G
NM_002591.3:c.1457T>G NP_002582.3:p.Phe486Cys
XM_011528839.1:c.1061T>G XP_011527141.1:p.Phe354Cys
XM_024451888.1:c.1061T>G XP_024307656.1:p.Phe354Cys
NM_002591.4:c.1457T>G MANE Select NP_002582.3:p.Phe486Cys