Canonical Allele Identifier: CA390657946
Community Standard Title: NM_004239.4(TRIP11):c.2355G>T (p.Met785Ile)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92005621C>A , CM000676.2:g.92005621C>A GRCh38
NC_000014.8:g.92471965C>A , CM000676.1:g.92471965C>A GRCh37
NC_000014.7:g.91541718C>A NCBI36
NG_016970.1:g.39439G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.2355G>T MANE Select NP_004230.2:p.Met785Ile
ENST00000267622.8:c.2355G>T MANE Select ENSP00000267622.4:p.Met785Ile
NM_001321851.1:c.2352G>T NP_001308780.1:p.Met784Ile
NM_004239.3:c.2355G>T NP_004230.2:p.Met785Ile
ENST00000554357.5:c.1501G>T
XM_005268214.2:c.1029G>T XP_005268271.1:p.Met343Ile
XM_005268215.2:c.1527+2019G>T XP_005268272.1:n.1527+2019G>T
XM_006720321.2:c.2352G>T XP_006720384.1:p.Met784Ile
XM_011537361.1:c.2355G>T XP_011535663.1:p.Met785Ile
XM_017021787.2:c.1650G>T XP_016877276.1:p.Met550Ile
XM_017021788.2:c.1029G>T XP_016877277.1:p.Met343Ile
XR_001750598.2:n.2804G>T
XR_943560.1:n.2810G>T
XR_943560.2:n.2804G>T