Canonical Allele Identifier: CA367280387

Gene: CDK13

Linked Data

• ClinVar Variation Id: 1709483
• ClinVar RCV Id: RCV002289298
• MyVariant Identifiers: chr7:g.40085606A>T (hg19) ; chr7:g.40046007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40046007A>T , CM000669.2:g.40046007A>T	GRCh38
NC_000007.13:g.40085606A>T , CM000669.1:g.40085606A>T	GRCh37
NC_000007.12:g.40052131A>T	NCBI36
NG_052965.1:g.100648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.261A>T
ENST00000700486.1:n.299A>T
ENST00000700487.1:n.267A>T
ENST00000181839.10:c.2525A>T MANE Select	ENSP00000181839.4:p.Asn842Ile
ENST00000340829.10:c.2525A>T	ENSP00000340557.5:p.Asn842Ile
ENST00000484589.2:c.1077A>T
ENST00000642592.1:c.78A>T
ENST00000643859.1:c.1416A>T
ENST00000643915.1:c.839A>T	ENSP00000496187.1:p.Asn280Ile
ENST00000645470.1:c.455A>T	ENSP00000495036.1:p.Asn152Ile
ENST00000646039.1:c.1865A>T	ENSP00000494168.1:p.Asn622Ile
ENST00000647453.1:n.1594A>T
ENST00000181839.8:c.2525A>T	ENSP00000181839.4:p.Asn842Ile
ENST00000340829.9:c.2525A>T	ENSP00000340557.5:p.Asn842Ile
ENST00000484589.1:n.1077A>T
ENST00000611390.1:c.683A>T	ENSP00000484610.1:p.Asn228Ile
ENST00000613626.4:c.683A>T	ENSP00000480835.1:p.Asn228Ile
NM_003718.4:c.2525A>T	NP_003709.3:p.Asn842Ile
NM_031267.3:c.2525A>T	NP_112557.2:p.Asn842Ile
XM_011515597.1:c.2525A>T	XP_011513899.1:p.Asn842Ile
XM_011515598.1:c.2525A>T	XP_011513900.1:p.Asn842Ile
XM_011515597.3:c.2525A>T	XP_011513899.1:p.Asn842Ile
XM_017012750.2:c.2525A>T	XP_016868239.1:p.Asn842Ile
XM_017012751.2:c.2525A>T	XP_016868240.1:p.Asn842Ile
NM_003718.5:c.2525A>T MANE Select	NP_003709.3:p.Asn842Ile