Canonical Allele Identifier: CA7313528
Community Standard Title: NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92003907G>T , CM000676.2:g.92003907G>T GRCh38
NC_000014.8:g.92470251G>T , CM000676.1:g.92470251G>T GRCh37
NC_000014.7:g.91540004G>T NCBI36
NG_016970.1:g.41153C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.4069C>A MANE Select NP_004230.2:p.Gln1357Lys
ENST00000267622.8:c.4069C>A MANE Select ENSP00000267622.4:p.Gln1357Lys
NM_001321851.1:c.4066C>A NP_001308780.1:p.Gln1356Lys
NM_004239.3:c.4069C>A NP_004230.2:p.Gln1357Lys
ENST00000554357.5:c.3215C>A
XM_005268214.2:c.2743C>A XP_005268271.1:p.Gln915Lys
XM_005268215.2:c.1527+3733C>A XP_005268272.1:n.1527+3733C>A
XM_006720321.2:c.4066C>A XP_006720384.1:p.Gln1356Lys
XM_011537361.1:c.4069C>A XP_011535663.1:p.Gln1357Lys
XM_017021787.2:c.3364C>A XP_016877276.1:p.Gln1122Lys
XM_017021788.2:c.2743C>A XP_016877277.1:p.Gln915Lys
XR_001750598.2:n.4518C>A
XR_943560.1:n.4524C>A
XR_943560.2:n.4518C>A