Canonical Allele Identifier: CA367288339

Gene: CDK13

Linked Data

• ClinVar Variation Id: 2506768
• ClinVar RCV Id: RCV003237137
• MyVariant Identifiers: chr7:g.40039058G>T (hg19) ; chr7:g.39999459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999459G>T , CM000669.2:g.39999459G>T	GRCh38
NC_000007.13:g.40039058G>T , CM000669.1:g.40039058G>T	GRCh37
NC_000007.12:g.40005583G>T	NCBI36
NG_052965.1:g.54100G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2141G>T MANE Select	ENSP00000181839.4:p.Gly714Val
ENST00000340829.10:c.2141G>T	ENSP00000340557.5:p.Gly714Val
ENST00000484589.2:c.693G>T
ENST00000642213.1:n.623G>T
ENST00000643859.1:c.1032G>T
ENST00000643915.1:c.455G>T	ENSP00000496187.1:p.Gly152Val
ENST00000645470.1:c.71G>T	ENSP00000495036.1:p.Gly24Val
ENST00000646039.1:c.1481G>T	ENSP00000494168.1:p.Gly494Val
ENST00000647453.1:n.1210G>T
ENST00000647518.1:n.3978G>T
ENST00000181839.8:c.2141G>T	ENSP00000181839.4:p.Gly714Val
ENST00000340829.9:c.2141G>T	ENSP00000340557.5:p.Gly714Val
ENST00000484589.1:n.693G>T
ENST00000611390.1:c.299G>T	ENSP00000484610.1:p.Gly100Val
ENST00000613626.4:c.299G>T	ENSP00000480835.1:p.Gly100Val
NM_003718.4:c.2141G>T	NP_003709.3:p.Gly714Val
NM_031267.3:c.2141G>T	NP_112557.2:p.Gly714Val
XM_011515597.1:c.2141G>T	XP_011513899.1:p.Gly714Val
XM_011515598.1:c.2141G>T	XP_011513900.1:p.Gly714Val
XM_011515597.3:c.2141G>T	XP_011513899.1:p.Gly714Val
XM_017012750.2:c.2141G>T	XP_016868239.1:p.Gly714Val
XM_017012751.2:c.2141G>T	XP_016868240.1:p.Gly714Val
NM_003718.5:c.2141G>T MANE Select	NP_003709.3:p.Gly714Val