Canonical Allele Identifier: CA390644509
Community Standard Title: NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91975209C>A , CM000676.2:g.91975209C>A GRCh38
NC_000014.8:g.92441553C>A , CM000676.1:g.92441553C>A GRCh37
NC_000014.7:g.91511306C>A NCBI36
NG_016970.1:g.69851G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5420G>T MANE Select NP_004230.2:p.Gly1807Val
ENST00000267622.8:c.5420G>T MANE Select ENSP00000267622.4:p.Gly1807Val
NM_001321851.1:c.5417G>T NP_001308780.1:p.Gly1806Val
NM_004239.3:c.5420G>T NP_004230.2:p.Gly1807Val
ENST00000554357.5:c.4566G>T
ENST00000557017.1:c.791G>T ENSP00000451607.1:n.791G>T
XM_005268214.2:c.4094G>T XP_005268271.1:p.Gly1365Val
XM_005268215.2:c.2390G>T XP_005268272.1:p.Gly797Val
XM_006720321.2:c.5417G>T XP_006720384.1:p.Gly1806Val
XM_017021787.2:c.4715G>T XP_016877276.1:p.Gly1572Val
XM_017021788.2:c.4094G>T XP_016877277.1:p.Gly1365Val
XR_943560.1:n.5998G>T
XR_943560.2:n.5992G>T