Canonical Allele Identifier: CA367290105

Gene: CDK13

Linked Data

• ClinVar Variation Id: 2575953
• ClinVar RCV Id: RCV003322014
• MyVariant Identifiers: chr7:g.40041607C>G (hg19) ; chr7:g.40002008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40002008C>G , CM000669.2:g.40002008C>G	GRCh38
NC_000007.13:g.40041607C>G , CM000669.1:g.40041607C>G	GRCh37
NC_000007.12:g.40008132C>G	NCBI36
NG_052965.1:g.56649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2330C>G MANE Select	ENSP00000181839.4:p.Ala777Gly
ENST00000340829.10:c.2330C>G	ENSP00000340557.5:p.Ala777Gly
ENST00000484589.2:c.882C>G
ENST00000642213.1:n.812C>G
ENST00000643859.1:c.1221C>G
ENST00000643915.1:c.644C>G	ENSP00000496187.1:p.Ala215Gly
ENST00000645470.1:c.260C>G	ENSP00000495036.1:p.Ala87Gly
ENST00000646039.1:c.1670C>G	ENSP00000494168.1:p.Ala557Gly
ENST00000647453.1:n.1399C>G
ENST00000647518.1:n.4167C>G
ENST00000181839.8:c.2330C>G	ENSP00000181839.4:p.Ala777Gly
ENST00000340829.9:c.2330C>G	ENSP00000340557.5:p.Ala777Gly
ENST00000484589.1:n.882C>G
ENST00000611390.1:c.488C>G	ENSP00000484610.1:p.Ala163Gly
ENST00000613626.4:c.488C>G	ENSP00000480835.1:p.Ala163Gly
NM_003718.4:c.2330C>G	NP_003709.3:p.Ala777Gly
NM_031267.3:c.2330C>G	NP_112557.2:p.Ala777Gly
XM_011515597.1:c.2330C>G	XP_011513899.1:p.Ala777Gly
XM_011515598.1:c.2330C>G	XP_011513900.1:p.Ala777Gly
XM_011515597.3:c.2330C>G	XP_011513899.1:p.Ala777Gly
XM_017012750.2:c.2330C>G	XP_016868239.1:p.Ala777Gly
XM_017012751.2:c.2330C>G	XP_016868240.1:p.Ala777Gly
NM_003718.5:c.2330C>G MANE Select	NP_003709.3:p.Ala777Gly