Canonical Allele Identifier: CA448877642

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1763607973
• MyVariant Identifiers: chr6:g.20546699A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546468A>C , CM000668.2:g.20546468A>C	GRCh38
NC_000006.11:g.20546699A>C , CM000668.1:g.20546699A>C	GRCh37
NC_000006.10:g.20654678A>C	NCBI36
NG_021195.1:g.17012A>C
NG_021195.2:g.17012A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.118A>C MANE Select	ENSP00000274695.4:p.Arg40=
ENST00000378610.1:c.118A>C	ENSP00000367873.1:p.Arg40=
ENST00000613575.4:c.118A>C	ENSP00000481755.1:p.Arg40=
NM_017774.3:c.118A>C MANE Select	NP_060244.2:p.Arg40=
XM_006715128.2:c.118A>C	XP_006715191.1:p.Arg40=
XM_011514718.1:c.118A>C	XP_011513020.1:p.Arg40=
XM_011514719.1:c.118A>C	XP_011513021.1:p.Arg40=
XR_926265.1:n.285A>C
XR_926266.1:n.398A>C
XR_926267.1:n.285A>C
XM_011514719.2:c.118A>C	XP_011513021.1:p.Arg40=
XM_017010986.1:c.118A>C	XP_016866475.1:p.Arg40=
XM_017010987.1:c.-637A>C	XP_016866476.1:n.-637A>C
XM_024446481.1:c.118A>C	XP_024302249.1:p.Arg40=
XR_001743495.2:n.290A>C
XR_001743496.2:n.685A>C
XR_001743500.1:n.285A>C
XR_001743501.1:n.285A>C
XR_926265.2:n.285A>C
XR_926266.2:n.398A>C
XR_926267.2:n.285A>C