Canonical Allele Identifier: CA7313845
Community Standard Title: NM_004239.4(TRIP11):c.2016T>A (p.Ala672=)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92005960A>T , CM000676.2:g.92005960A>T GRCh38
NC_000014.8:g.92472304A>T , CM000676.1:g.92472304A>T GRCh37
NC_000014.7:g.91542057A>T NCBI36
NG_016970.1:g.39100T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.2016T>A MANE Select NP_004230.2:p.Ala672=
ENST00000267622.8:c.2016T>A MANE Select ENSP00000267622.4:p.Ala672=
NM_001321851.1:c.2013T>A NP_001308780.1:p.Ala671=
NM_004239.3:c.2016T>A NP_004230.2:p.Ala672=
ENST00000554357.5:c.1162T>A
XM_005268214.2:c.690T>A XP_005268271.1:p.Ala230=
XM_005268215.2:c.1527+1680T>A XP_005268272.1:n.1527+1680T>A
XM_006720321.2:c.2013T>A XP_006720384.1:p.Ala671=
XM_011537361.1:c.2016T>A XP_011535663.1:p.Ala672=
XM_017021787.2:c.1311T>A XP_016877276.1:p.Ala437=
XM_017021788.2:c.690T>A XP_016877277.1:p.Ala230=
XR_001750598.2:n.2465T>A
XR_943560.1:n.2471T>A
XR_943560.2:n.2465T>A