Canonical Allele Identifier: CA265600797
Community Standard Title: NM_004239.4(TRIP11):c.5056+198T>G
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91995154A>C , CM000676.2:g.91995154A>C GRCh38
NC_000014.8:g.92461498A>C , CM000676.1:g.92461498A>C GRCh37
NC_000014.7:g.91531251A>C NCBI36
NG_016970.1:g.49906T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5056+198T>G MANE Select NP_004230.2:n.5056+198T>G
ENST00000267622.8:c.5056+198T>G MANE Select ENSP00000267622.4:n.5056+198T>G
NM_001321851.1:c.5053+198T>G NP_001308780.1:n.5053+198T>G
NM_004239.3:c.5056+198T>G NP_004230.2:n.5056+198T>G
ENST00000554357.5:c.4202+198T>G
ENST00000557017.1:c.304+198T>G ENSP00000451607.1:n.304+198T>G
XM_005268214.2:c.3730+198T>G XP_005268271.1:n.3730+198T>G
XM_005268215.2:c.2026+198T>G XP_005268272.1:n.2026+198T>G
XM_006720321.2:c.5053+198T>G XP_006720384.1:n.5053+198T>G
XM_011537361.1:c.4893-1242T>G XP_011535663.1:n.4893-1242T>G
XM_017021787.2:c.4351+198T>G XP_016877276.1:n.4351+198T>G
XM_017021788.2:c.3730+198T>G XP_016877277.1:n.3730+198T>G
XR_001750598.2:n.5342-1242T>G
XR_943560.1:n.5511+198T>G
XR_943560.2:n.5505+198T>G