Canonical Allele Identifier: CA363268408
Gene: CDKAL1 HGNC NCBI
dbSNP:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.21065218C>A , CM000668.2:g.21065218C>A GRCh38
NC_000006.11:g.21065449C>A , CM000668.1:g.21065449C>A GRCh37
NC_000006.10:g.21173428C>A NCBI36
NG_021195.1:g.535762C>A
NG_021195.2:g.535762C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.1226C>A MANE Select ENSP00000274695.4:p.Pro409Gln
ENST00000378610.1:c.1226C>A ENSP00000367873.1:p.Pro409Gln
NM_017774.3:c.1226C>A MANE Select NP_060244.2:p.Pro409Gln
XM_006715128.2:c.1226C>A XP_006715191.1:p.Pro409Gln
XM_011514718.1:c.1226C>A XP_011513020.1:p.Pro409Gln
XM_011514719.1:c.1226C>A XP_011513021.1:p.Pro409Gln
XR_926265.1:n.1393C>A
XR_926266.1:n.1506C>A
XR_926267.1:n.1393C>A
XM_011514719.2:c.1226C>A XP_011513021.1:p.Pro409Gln
XM_017010986.1:c.1226C>A XP_016866475.1:p.Pro409Gln
XM_017010987.1:c.368C>A XP_016866476.1:p.Pro123Gln
XM_024446481.1:c.1226C>A XP_024302249.1:p.Pro409Gln
XR_001743495.2:n.1398C>A
XR_001743496.2:n.1793C>A
XR_001743498.2:n.3125C>A
XR_001743499.2:n.719C>A
XR_001743500.1:n.1226C>A
XR_001743501.1:n.1226C>A
XR_926265.2:n.1393C>A
XR_926266.2:n.1506C>A
XR_926267.2:n.1393C>A