Canonical Allele Identifier: CA367280435

Gene: CDK13

Linked Data

• gnomAD v4: 7-40046013-T-C
• MyVariant Identifiers: chr7:g.40085612T>C (hg19) ; chr7:g.40046013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40046013T>C , CM000669.2:g.40046013T>C	GRCh38
NC_000007.13:g.40085612T>C , CM000669.1:g.40085612T>C	GRCh37
NC_000007.12:g.40052137T>C	NCBI36
NG_052965.1:g.100654T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700485.1:n.267T>C
ENST00000700486.1:n.305T>C
ENST00000700487.1:n.273T>C
ENST00000181839.10:c.2531T>C MANE Select	ENSP00000181839.4:p.Leu844Pro
ENST00000340829.10:c.2531T>C	ENSP00000340557.5:p.Leu844Pro
ENST00000484589.2:c.1083T>C
ENST00000642592.1:c.84T>C
ENST00000643859.1:c.1422T>C
ENST00000643915.1:c.845T>C	ENSP00000496187.1:p.Leu282Pro
ENST00000645470.1:c.461T>C	ENSP00000495036.1:p.Leu154Pro
ENST00000646039.1:c.1871T>C	ENSP00000494168.1:p.Leu624Pro
ENST00000647453.1:n.1600T>C
ENST00000181839.8:c.2531T>C	ENSP00000181839.4:p.Leu844Pro
ENST00000340829.9:c.2531T>C	ENSP00000340557.5:p.Leu844Pro
ENST00000484589.1:n.1083T>C
ENST00000611390.1:c.689T>C	ENSP00000484610.1:p.Leu230Pro
ENST00000613626.4:c.689T>C	ENSP00000480835.1:p.Leu230Pro
NM_003718.4:c.2531T>C	NP_003709.3:p.Leu844Pro
NM_031267.3:c.2531T>C	NP_112557.2:p.Leu844Pro
XM_011515597.1:c.2531T>C	XP_011513899.1:p.Leu844Pro
XM_011515598.1:c.2531T>C	XP_011513900.1:p.Leu844Pro
XM_011515597.3:c.2531T>C	XP_011513899.1:p.Leu844Pro
XM_017012750.2:c.2531T>C	XP_016868239.1:p.Leu844Pro
XM_017012751.2:c.2531T>C	XP_016868240.1:p.Leu844Pro
NM_003718.5:c.2531T>C MANE Select	NP_003709.3:p.Leu844Pro