Canonical Allele Identifier: CA7313134
Community Standard Title: NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91974732G>A , CM000676.2:g.91974732G>A GRCh38
NC_000014.8:g.92441076G>A , CM000676.1:g.92441076G>A GRCh37
NC_000014.7:g.91510829G>A NCBI36
NG_016970.1:g.70328C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5469C>T MANE Select NP_004230.2:p.Asp1823=
ENST00000267622.8:c.5469C>T MANE Select ENSP00000267622.4:p.Asp1823=
NM_001321851.1:c.5466C>T NP_001308780.1:p.Asp1822=
NM_004239.3:c.5469C>T NP_004230.2:p.Asp1823=
ENST00000554357.5:c.4615C>T
XM_005268214.2:c.4143C>T XP_005268271.1:p.Asp1381=
XM_005268215.2:c.2439C>T XP_005268272.1:p.Asp813=
XM_006720321.2:c.5466C>T XP_006720384.1:p.Asp1822=
XM_017021787.2:c.4764C>T XP_016877276.1:p.Asp1588=
XM_017021788.2:c.4143C>T XP_016877277.1:p.Asp1381=
XR_943560.1:n.6047C>T
XR_943560.2:n.6041C>T