Canonical Allele Identifier: CA1086677572

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1772757908
• gnomAD v3: 6-20728544-T-C
• gnomAD v4: 6-20728544-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20728544T>C , CM000668.2:g.20728544T>C	GRCh38
NC_000006.11:g.20728775T>C , CM000668.1:g.20728775T>C	GRCh37
NC_000006.10:g.20836754T>C	NCBI36
NG_021195.1:g.199088T>C
NG_021195.2:g.199088T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.372-10975T>C MANE Select	ENSP00000274695.4:n.372-10975T>C
ENST00000378610.1:c.372-10975T>C	ENSP00000367873.1:n.372-10975T>C
NM_017774.3:c.372-10975T>C MANE Select	NP_060244.2:n.372-10975T>C
XM_006715128.2:c.372-10975T>C	XP_006715191.1:n.372-10975T>C
XM_011514718.1:c.372-10975T>C	XP_011513020.1:n.372-10975T>C
XM_011514719.1:c.372-10975T>C	XP_011513021.1:n.372-10975T>C
XR_926265.1:n.539-10975T>C
XR_926266.1:n.652-10975T>C
XR_926267.1:n.539-10975T>C
XM_011514719.2:c.372-10975T>C	XP_011513021.1:n.372-10975T>C
XM_017010986.1:c.372-10975T>C	XP_016866475.1:n.372-10975T>C
XM_017010987.1:c.-383-10975T>C	XP_016866476.1:n.-383-10975T>C
XM_024446481.1:c.372-10975T>C	XP_024302249.1:n.372-10975T>C
XR_001743495.2:n.544-10975T>C
XR_001743496.2:n.939-10975T>C
XR_001743500.1:n.539-10975T>C
XR_001743501.1:n.539-10975T>C
XR_926265.2:n.539-10975T>C
XR_926266.2:n.652-10975T>C
XR_926267.2:n.539-10975T>C