Canonical Allele Identifier: CA965740062

Gene: TTC8

Linked Data

• dbSNP Id: rs2094928496
• gnomAD v3: 14-88870274-G-A
• gnomAD v4: 14-88870274-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88870274G>A , CM000676.2:g.88870274G>A	GRCh38
NC_000014.8:g.89336618G>A , CM000676.1:g.89336618G>A	GRCh37
NC_000014.7:g.88406371G>A	NCBI36
NG_008126.1:g.50641G>A
NG_008126.2:g.51122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.1049+76G>A MANE Select	ENSP00000370031.2:n.1049+76G>A
ENST00000557580.3:c.414+76G>A	ENSP00000451955.2:n.414+76G>A
ENST00000338104.10:c.1097+76G>A	ENSP00000337653.6:n.1097+76G>A
ENST00000345383.9:c.1049+76G>A	ENSP00000339486.6:n.1049+76G>A
ENST00000346301.8:c.929+76G>A	ENSP00000298324.6:n.929+76G>A
ENST00000354441.10:c.254+76G>A	ENSP00000346427.6:n.254+76G>A
ENST00000358622.9:c.455+76G>A	ENSP00000351439.5:n.455+76G>A
ENST00000380656.6:c.1049+76G>A	ENSP00000370031.2:n.1049+76G>A
ENST00000536576.5:c.929+76G>A	ENSP00000445067.2:n.929+76G>A
ENST00000554686.5:c.898+76G>A
ENST00000555057.5:c.*456+76G>A	ENSP00000450951.1:n.*456+76G>A
ENST00000557580.2:c.414+76G>A
ENST00000614125.4:c.1097+76G>A	ENSP00000482306.1:n.1097+76G>A
ENST00000622513.4:c.1019+76G>A	ENSP00000482721.1:n.1019+76G>A
NM_001288781.1:c.1097+76G>A	NP_001275710.1:n.1097+76G>A
NM_001288782.1:c.455+76G>A	NP_001275711.1:n.455+76G>A
NM_001288783.1:c.332+76G>A	NP_001275712.1:n.332+76G>A
NM_144596.3:c.1049+76G>A	NP_653197.2:n.1049+76G>A
NM_198309.3:c.1019+76G>A	NP_938051.1:n.1019+76G>A
NM_198310.3:c.929+76G>A	NP_938052.1:n.929+76G>A
XM_006720035.1:c.1019+76G>A	XP_006720098.1:n.1019+76G>A
XM_006720037.2:c.929+76G>A	XP_006720100.1:n.929+76G>A
XM_011536432.1:c.1097+76G>A	XP_011534734.1:n.1097+76G>A
XM_011536433.1:c.1097+76G>A	XP_011534735.1:n.1097+76G>A
XM_011536434.1:c.1007+76G>A	XP_011534736.1:n.1007+76G>A
XM_011536435.1:c.332+76G>A	XP_011534737.1:n.332+76G>A
NM_001366535.1:c.1019+76G>A	NP_001353464.1:n.1019+76G>A
NM_001366536.1:c.929+76G>A	NP_001353465.1:n.929+76G>A
NR_159362.1:n.1136+76G>A
XM_011536433.2:c.1097+76G>A	XP_011534735.1:n.1097+76G>A
XM_011536434.2:c.1007+76G>A	XP_011534736.1:n.1007+76G>A
XM_024449477.1:c.332+76G>A	XP_024305245.1:n.332+76G>A
NM_001366535.2:c.1019+76G>A	NP_001353464.1:n.1019+76G>A
NM_001366536.2:c.929+76G>A	NP_001353465.1:n.929+76G>A
NR_159362.2:n.1136+76G>A
NM_144596.4:c.1049+76G>A MANE Select	NP_653197.2:n.1049+76G>A