Canonical Allele Identifier: CA390644686
Community Standard Title: NM_004239.4(TRIP11):c.5343-1G>C
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91975287C>G , CM000676.2:g.91975287C>G GRCh38
NC_000014.8:g.92441631C>G , CM000676.1:g.92441631C>G GRCh37
NC_000014.7:g.91511384C>G NCBI36
NG_016970.1:g.69773G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5343-1G>C MANE Select NP_004230.2:n.5343-1G>C
ENST00000267622.8:c.5343-1G>C MANE Select ENSP00000267622.4:n.5343-1G>C
NM_001321851.1:c.5340-1G>C NP_001308780.1:n.5340-1G>C
NM_004239.3:c.5343-1G>C NP_004230.2:n.5343-1G>C
ENST00000554357.5:c.4489-1G>C
ENST00000557017.1:c.714-1G>C ENSP00000451607.1:n.714-1G>C
XM_005268214.2:c.4017-1G>C XP_005268271.1:n.4017-1G>C
XM_005268215.2:c.2313-1G>C XP_005268272.1:n.2313-1G>C
XM_006720321.2:c.5340-1G>C XP_006720384.1:n.5340-1G>C
XM_017021787.2:c.4638-1G>C XP_016877276.1:n.4638-1G>C
XM_017021788.2:c.4017-1G>C XP_016877277.1:n.4017-1G>C
XR_943560.1:n.5921-1G>C
XR_943560.2:n.5915-1G>C