Canonical Allele Identifier: CA367288010

Gene: CDK13

Linked Data

• dbSNP Id: rs1255045802
• gnomAD v2: 7-40038986-C-T
• MyVariant Identifiers: chr7:g.40038986C>T (hg19) ; chr7:g.39999387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999387C>T , CM000669.2:g.39999387C>T	GRCh38
NC_000007.13:g.40038986C>T , CM000669.1:g.40038986C>T	GRCh37
NC_000007.12:g.40005511C>T	NCBI36
NG_052965.1:g.54028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2069C>T MANE Select	ENSP00000181839.4:p.Thr690Ile
ENST00000340829.10:c.2069C>T	ENSP00000340557.5:p.Thr690Ile
ENST00000484589.2:c.621C>T
ENST00000642213.1:n.551C>T
ENST00000643859.1:c.960C>T
ENST00000643915.1:c.383C>T	ENSP00000496187.1:p.Thr128Ile
ENST00000646039.1:c.1409C>T	ENSP00000494168.1:p.Thr470Ile
ENST00000646437.1:c.703C>T
ENST00000647453.1:n.1138C>T
ENST00000647518.1:n.3906C>T
ENST00000181839.8:c.2069C>T	ENSP00000181839.4:p.Thr690Ile
ENST00000340829.9:c.2069C>T	ENSP00000340557.5:p.Thr690Ile
ENST00000484589.1:n.621C>T
ENST00000611390.1:c.227C>T	ENSP00000484610.1:p.Thr76Ile
ENST00000613626.4:c.227C>T	ENSP00000480835.1:p.Thr76Ile
NM_003718.4:c.2069C>T	NP_003709.3:p.Thr690Ile
NM_031267.3:c.2069C>T	NP_112557.2:p.Thr690Ile
XM_011515597.1:c.2069C>T	XP_011513899.1:p.Thr690Ile
XM_011515598.1:c.2069C>T	XP_011513900.1:p.Thr690Ile
XM_011515597.3:c.2069C>T	XP_011513899.1:p.Thr690Ile
XM_017012750.2:c.2069C>T	XP_016868239.1:p.Thr690Ile
XM_017012751.2:c.2069C>T	XP_016868240.1:p.Thr690Ile
NM_003718.5:c.2069C>T MANE Select	NP_003709.3:p.Thr690Ile