Canonical Allele Identifier: CA409437133
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565361A>C , CM000682.2:g.57565361A>C GRCh38
NC_000020.10:g.56140417A>C , CM000682.1:g.56140417A>C GRCh37
NC_000020.9:g.55573823A>C NCBI36
NG_008205.1:g.9281A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1426A>C MANE Select ENSP00000319814.4:p.Met476Leu
ENST00000319441.5:c.1426A>C ENSP00000319814.4:p.Met476Leu
ENST00000467047.1:n.4068A>C
ENST00000485958.1:n.550A>C
NM_002591.3:c.1426A>C NP_002582.3:p.Met476Leu
XM_011528839.1:c.1030A>C XP_011527141.1:p.Met344Leu
XM_024451888.1:c.1030A>C XP_024307656.1:p.Met344Leu
NM_002591.4:c.1426A>C MANE Select NP_002582.3:p.Met476Leu