Canonical Allele Identifier: CA367287954

Gene: CDK13

Linked Data

• dbSNP Id: rs1413164841
• MyVariant Identifiers: chr7:g.40038961A>C (hg19) ; chr7:g.39999362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999362A>C , CM000669.2:g.39999362A>C	GRCh38
NC_000007.13:g.40038961A>C , CM000669.1:g.40038961A>C	GRCh37
NC_000007.12:g.40005486A>C	NCBI36
NG_052965.1:g.54003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2044A>C MANE Select	ENSP00000181839.4:p.Ile682Leu
ENST00000340829.10:c.2044A>C	ENSP00000340557.5:p.Ile682Leu
ENST00000484589.2:c.596A>C
ENST00000642213.1:n.526A>C
ENST00000642660.1:n.924A>C
ENST00000643859.1:c.935A>C
ENST00000643915.1:c.358A>C	ENSP00000496187.1:p.Ile120Leu
ENST00000646039.1:c.1384A>C	ENSP00000494168.1:p.Ile462Leu
ENST00000646437.1:c.678A>C
ENST00000647453.1:n.1113A>C
ENST00000647518.1:n.3881A>C
ENST00000181839.8:c.2044A>C	ENSP00000181839.4:p.Ile682Leu
ENST00000340829.9:c.2044A>C	ENSP00000340557.5:p.Ile682Leu
ENST00000484589.1:n.596A>C
ENST00000611390.1:c.202A>C	ENSP00000484610.1:p.Ile68Leu
ENST00000613626.4:c.202A>C	ENSP00000480835.1:p.Ile68Leu
NM_003718.4:c.2044A>C	NP_003709.3:p.Ile682Leu
NM_031267.3:c.2044A>C	NP_112557.2:p.Ile682Leu
XM_011515597.1:c.2044A>C	XP_011513899.1:p.Ile682Leu
XM_011515598.1:c.2044A>C	XP_011513900.1:p.Ile682Leu
XM_011515597.3:c.2044A>C	XP_011513899.1:p.Ile682Leu
XM_017012750.2:c.2044A>C	XP_016868239.1:p.Ile682Leu
XM_017012751.2:c.2044A>C	XP_016868240.1:p.Ile682Leu
NM_003718.5:c.2044A>C MANE Select	NP_003709.3:p.Ile682Leu