Canonical Allele Identifier: CA390645584
Community Standard Title: NM_004239.4(TRIP11):c.5057-1G>A
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91993913C>T , CM000676.2:g.91993913C>T GRCh38
NC_000014.8:g.92460257C>T , CM000676.1:g.92460257C>T GRCh37
NC_000014.7:g.91530010C>T NCBI36
NG_016970.1:g.51147G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5057-1G>A MANE Select NP_004230.2:n.5057-1G>A
ENST00000267622.8:c.5057-1G>A MANE Select ENSP00000267622.4:n.5057-1G>A
NM_001321851.1:c.5054-1G>A NP_001308780.1:n.5054-1G>A
NM_004239.3:c.5057-1G>A NP_004230.2:n.5057-1G>A
ENST00000554357.5:c.4203-1G>A
ENST00000557017.1:c.305-1G>A ENSP00000451607.1:n.305-1G>A
XM_005268214.2:c.3731-1G>A XP_005268271.1:n.3731-1G>A
XM_005268215.2:c.2027-1G>A XP_005268272.1:n.2027-1G>A
XM_006720321.2:c.5054-1G>A XP_006720384.1:n.5054-1G>A
XM_011537361.1:c.4893-1G>A XP_011535663.1:n.4893-1G>A
XM_017021787.2:c.4352-1G>A XP_016877276.1:n.4352-1G>A
XM_017021788.2:c.3731-1G>A XP_016877277.1:n.3731-1G>A
XR_001750598.2:n.5342-1G>A
XR_943560.1:n.5512-1G>A
XR_943560.2:n.5506-1G>A