Canonical Allele Identifier: CA7313846
Community Standard Title: NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92005972T>A , CM000676.2:g.92005972T>A GRCh38
NC_000014.8:g.92472316T>A , CM000676.1:g.92472316T>A GRCh37
NC_000014.7:g.91542069T>A NCBI36
NG_016970.1:g.39088A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.2004A>T MANE Select NP_004230.2:p.Leu668Phe
ENST00000267622.8:c.2004A>T MANE Select ENSP00000267622.4:p.Leu668Phe
NM_001321851.1:c.2001A>T NP_001308780.1:p.Leu667Phe
NM_004239.3:c.2004A>T NP_004230.2:p.Leu668Phe
ENST00000554357.5:c.1150A>T
XM_005268214.2:c.678A>T XP_005268271.1:p.Leu226Phe
XM_005268215.2:c.1527+1668A>T XP_005268272.1:n.1527+1668A>T
XM_006720321.2:c.2001A>T XP_006720384.1:p.Leu667Phe
XM_011537361.1:c.2004A>T XP_011535663.1:p.Leu668Phe
XM_017021787.2:c.1299A>T XP_016877276.1:p.Leu433Phe
XM_017021788.2:c.678A>T XP_016877277.1:p.Leu226Phe
XR_001750598.2:n.2453A>T
XR_943560.1:n.2459A>T
XR_943560.2:n.2453A>T