Canonical Allele Identifier: CA363264169

Gene: CDKAL1

Linked Data

• MyVariant Identifiers: chr6:g.20546703G>T (hg19) ; chr6:g.20546472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546472G>T , CM000668.2:g.20546472G>T	GRCh38
NC_000006.11:g.20546703G>T , CM000668.1:g.20546703G>T	GRCh37
NC_000006.10:g.20654682G>T	NCBI36
NG_021195.1:g.17016G>T
NG_021195.2:g.17016G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.122G>T MANE Select	ENSP00000274695.4:p.Arg41Leu
ENST00000378610.1:c.122G>T	ENSP00000367873.1:p.Arg41Leu
ENST00000613575.4:c.122G>T	ENSP00000481755.1:p.Arg41Leu
NM_017774.3:c.122G>T MANE Select	NP_060244.2:p.Arg41Leu
XM_006715128.2:c.122G>T	XP_006715191.1:p.Arg41Leu
XM_011514718.1:c.122G>T	XP_011513020.1:p.Arg41Leu
XM_011514719.1:c.122G>T	XP_011513021.1:p.Arg41Leu
XR_926265.1:n.289G>T
XR_926266.1:n.402G>T
XR_926267.1:n.289G>T
XM_011514719.2:c.122G>T	XP_011513021.1:p.Arg41Leu
XM_017010986.1:c.122G>T	XP_016866475.1:p.Arg41Leu
XM_017010987.1:c.-633G>T	XP_016866476.1:n.-633G>T
XM_024446481.1:c.122G>T	XP_024302249.1:p.Arg41Leu
XR_001743495.2:n.294G>T
XR_001743496.2:n.689G>T
XR_001743500.1:n.289G>T
XR_001743501.1:n.289G>T
XR_926265.2:n.289G>T
XR_926266.2:n.402G>T
XR_926267.2:n.289G>T