Canonical Allele Identifier: CA367286277
Community Standard Title: NM_003718.5(CDK13):c.2719C>T (p.Leu907Phe)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40063039C>T , CM000669.2:g.40063039C>T GRCh38
NC_000007.13:g.40102638C>T , CM000669.1:g.40102638C>T GRCh37
NC_000007.12:g.40069163C>T NCBI36
NG_052965.1:g.117680C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.2719C>T MANE Select NP_003709.3:p.Leu907Phe
ENST00000181839.10:c.2719C>T MANE Select ENSP00000181839.4:p.Leu907Phe
NM_003718.4:c.2719C>T NP_003709.3:p.Leu907Phe
NM_031267.3:c.2719C>T NP_112557.2:p.Leu907Phe
ENST00000181839.8:c.2719C>T ENSP00000181839.4:p.Leu907Phe
ENST00000340829.10:c.2719C>T ENSP00000340557.5:p.Leu907Phe
ENST00000340829.9:c.2719C>T ENSP00000340557.5:p.Leu907Phe
ENST00000478563.2:n.184C>T
ENST00000484589.1:n.1271C>T
ENST00000484589.2:c.1271C>T
ENST00000611390.1:c.877C>T ENSP00000484610.1:p.Leu293Phe
ENST00000613626.4:c.877C>T ENSP00000480835.1:p.Leu293Phe
ENST00000642592.1:c.272C>T
ENST00000643859.1:c.1610C>T
ENST00000643915.1:c.1033C>T ENSP00000496187.1:p.Leu345Phe
ENST00000644221.1:n.2125C>T
ENST00000644561.1:n.434C>T
ENST00000645470.1:c.649C>T ENSP00000495036.1:p.Leu217Phe
ENST00000646039.1:c.2059C>T ENSP00000494168.1:p.Leu687Phe
ENST00000700485.1:n.455C>T
ENST00000700486.1:n.493C>T
ENST00000700487.1:n.461C>T
XM_017012750.2:c.2809C>T XP_016868239.1:p.Leu937Phe
XM_017012751.2:c.2809C>T XP_016868240.1:p.Leu937Phe