Canonical Allele Identifier: CA409437423
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565488G>T , CM000682.2:g.57565488G>T GRCh38
NC_000020.10:g.56140544G>T , CM000682.1:g.56140544G>T GRCh37
NC_000020.9:g.55573950G>T NCBI36
NG_008205.1:g.9408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1553G>T MANE Select ENSP00000319814.4:p.Arg518Leu
ENST00000319441.5:c.1553G>T ENSP00000319814.4:p.Arg518Leu
ENST00000467047.1:n.4195G>T
NM_002591.3:c.1553G>T NP_002582.3:p.Arg518Leu
XM_011528839.1:c.1157G>T XP_011527141.1:p.Arg386Leu
XM_024451888.1:c.1157G>T XP_024307656.1:p.Arg386Leu
NM_002591.4:c.1553G>T MANE Select NP_002582.3:p.Arg518Leu