Canonical Allele Identifier: CA363264145
Gene: CDKAL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20546466G>T , CM000668.2:g.20546466G>T GRCh38
NC_000006.11:g.20546697G>T , CM000668.1:g.20546697G>T GRCh37
NC_000006.10:g.20654676G>T NCBI36
NG_021195.1:g.17010G>T
NG_021195.2:g.17010G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.116G>T MANE Select ENSP00000274695.4:p.Arg39Leu
ENST00000378610.1:c.116G>T ENSP00000367873.1:p.Arg39Leu
ENST00000613575.4:c.116G>T ENSP00000481755.1:p.Arg39Leu
NM_017774.3:c.116G>T MANE Select NP_060244.2:p.Arg39Leu
XM_006715128.2:c.116G>T XP_006715191.1:p.Arg39Leu
XM_011514718.1:c.116G>T XP_011513020.1:p.Arg39Leu
XM_011514719.1:c.116G>T XP_011513021.1:p.Arg39Leu
XR_926265.1:n.283G>T
XR_926266.1:n.396G>T
XR_926267.1:n.283G>T
XM_011514719.2:c.116G>T XP_011513021.1:p.Arg39Leu
XM_017010986.1:c.116G>T XP_016866475.1:p.Arg39Leu
XM_017010987.1:c.-639G>T XP_016866476.1:n.-639G>T
XM_024446481.1:c.116G>T XP_024302249.1:p.Arg39Leu
XR_001743495.2:n.288G>T
XR_001743496.2:n.683G>T
XR_001743500.1:n.283G>T
XR_001743501.1:n.283G>T
XR_926265.2:n.283G>T
XR_926266.2:n.396G>T
XR_926267.2:n.283G>T