Canonical Allele Identifier: CA409437504
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565523T>C , CM000682.2:g.57565523T>C GRCh38
NC_000020.10:g.56140579T>C , CM000682.1:g.56140579T>C GRCh37
NC_000020.9:g.55573985T>C NCBI36
NG_008205.1:g.9443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1588T>C MANE Select ENSP00000319814.4:p.Phe530Leu
ENST00000319441.5:c.1588T>C ENSP00000319814.4:p.Phe530Leu
ENST00000467047.1:n.4230T>C
NM_002591.3:c.1588T>C NP_002582.3:p.Phe530Leu
XM_011528839.1:c.1192T>C XP_011527141.1:p.Phe398Leu
XM_024451888.1:c.1192T>C XP_024307656.1:p.Phe398Leu
NM_002591.4:c.1588T>C MANE Select NP_002582.3:p.Phe530Leu