Canonical Allele Identifier: CA3652999

Gene: CDKAL1

Linked Data

• dbSNP Id: rs779801039
• ExAC: 6:20546702 C / T
• gnomAD v2: 6-20546702-C-T
• gnomAD v3: 6-20546471-C-T
• gnomAD v4: 6-20546471-C-T
• MyVariant Identifiers: chr6:g.20546702C>T (hg19) ; chr6:g.20546471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546471C>T , CM000668.2:g.20546471C>T	GRCh38
NC_000006.11:g.20546702C>T , CM000668.1:g.20546702C>T	GRCh37
NC_000006.10:g.20654681C>T	NCBI36
NG_021195.1:g.17015C>T
NG_021195.2:g.17015C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.121C>T MANE Select	ENSP00000274695.4:p.Arg41Ter
ENST00000378610.1:c.121C>T	ENSP00000367873.1:p.Arg41Ter
ENST00000613575.4:c.121C>T	ENSP00000481755.1:p.Arg41Ter
NM_017774.3:c.121C>T MANE Select	NP_060244.2:p.Arg41Ter
XM_006715128.2:c.121C>T	XP_006715191.1:p.Arg41Ter
XM_011514718.1:c.121C>T	XP_011513020.1:p.Arg41Ter
XM_011514719.1:c.121C>T	XP_011513021.1:p.Arg41Ter
XR_926265.1:n.288C>T
XR_926266.1:n.401C>T
XR_926267.1:n.288C>T
XM_011514719.2:c.121C>T	XP_011513021.1:p.Arg41Ter
XM_017010986.1:c.121C>T	XP_016866475.1:p.Arg41Ter
XM_017010987.1:c.-634C>T	XP_016866476.1:n.-634C>T
XM_024446481.1:c.121C>T	XP_024302249.1:p.Arg41Ter
XR_001743495.2:n.293C>T
XR_001743496.2:n.688C>T
XR_001743500.1:n.288C>T
XR_001743501.1:n.288C>T
XR_926265.2:n.288C>T
XR_926266.2:n.401C>T
XR_926267.2:n.288C>T