Canonical Allele Identifier: CA135752722

Gene: CDKAL1

Linked Data

• dbSNP Id: rs77152992
• gnomAD v2: 6-21065449-C-G
• gnomAD v4: 6-21065218-C-G
• MyVariant Identifiers: chr6:g.21065449C>G (hg19) ; chr6:g.21065218C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.1226C>G MANE Select	ENSP00000274695.4:p.Pro409Arg
ENST00000378610.1:c.1226C>G	ENSP00000367873.1:p.Pro409Arg
NM_017774.3:c.1226C>G MANE Select	NP_060244.2:p.Pro409Arg
XM_006715128.2:c.1226C>G	XP_006715191.1:p.Pro409Arg
XM_011514718.1:c.1226C>G	XP_011513020.1:p.Pro409Arg
XM_011514719.1:c.1226C>G	XP_011513021.1:p.Pro409Arg
XR_926265.1:n.1393C>G
XR_926266.1:n.1506C>G
XR_926267.1:n.1393C>G
XM_011514719.2:c.1226C>G	XP_011513021.1:p.Pro409Arg
XM_017010986.1:c.1226C>G	XP_016866475.1:p.Pro409Arg
XM_017010987.1:c.368C>G	XP_016866476.1:p.Pro123Arg
XM_024446481.1:c.1226C>G	XP_024302249.1:p.Pro409Arg
XR_001743495.2:n.1398C>G
XR_001743496.2:n.1793C>G
XR_001743498.2:n.3125C>G
XR_001743499.2:n.719C>G
XR_001743500.1:n.1226C>G
XR_001743501.1:n.1226C>G
XR_926265.2:n.1393C>G
XR_926266.2:n.1506C>G
XR_926267.2:n.1393C>G