Canonical Allele Identifier: CA367288335

Gene: CDK13

Linked Data

• ClinVar Variation Id: 977619
• ClinVar RCV Id: RCV001255381
• MyVariant Identifiers: chr7:g.40039057G>T (hg19) ; chr7:g.39999458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999458G>T , CM000669.2:g.39999458G>T	GRCh38
NC_000007.13:g.40039057G>T , CM000669.1:g.40039057G>T	GRCh37
NC_000007.12:g.40005582G>T	NCBI36
NG_052965.1:g.54099G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2140G>T MANE Select	ENSP00000181839.4:p.Gly714Cys
ENST00000340829.10:c.2140G>T	ENSP00000340557.5:p.Gly714Cys
ENST00000484589.2:c.692G>T
ENST00000642213.1:n.622G>T
ENST00000643859.1:c.1031G>T
ENST00000643915.1:c.454G>T	ENSP00000496187.1:p.Gly152Cys
ENST00000645470.1:c.70G>T	ENSP00000495036.1:p.Gly24Cys
ENST00000646039.1:c.1480G>T	ENSP00000494168.1:p.Gly494Cys
ENST00000647453.1:n.1209G>T
ENST00000647518.1:n.3977G>T
ENST00000181839.8:c.2140G>T	ENSP00000181839.4:p.Gly714Cys
ENST00000340829.9:c.2140G>T	ENSP00000340557.5:p.Gly714Cys
ENST00000484589.1:n.692G>T
ENST00000611390.1:c.298G>T	ENSP00000484610.1:p.Gly100Cys
ENST00000613626.4:c.298G>T	ENSP00000480835.1:p.Gly100Cys
NM_003718.4:c.2140G>T	NP_003709.3:p.Gly714Cys
NM_031267.3:c.2140G>T	NP_112557.2:p.Gly714Cys
XM_011515597.1:c.2140G>T	XP_011513899.1:p.Gly714Cys
XM_011515598.1:c.2140G>T	XP_011513900.1:p.Gly714Cys
XM_011515597.3:c.2140G>T	XP_011513899.1:p.Gly714Cys
XM_017012750.2:c.2140G>T	XP_016868239.1:p.Gly714Cys
XM_017012751.2:c.2140G>T	XP_016868240.1:p.Gly714Cys
NM_003718.5:c.2140G>T MANE Select	NP_003709.3:p.Gly714Cys