Canonical Allele Identifier: CA390553820

Gene: TTC8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88875025G>A , CM000676.2:g.88875025G>A	GRCh38
NC_000014.8:g.89341369G>A , CM000676.1:g.89341369G>A	GRCh37
NC_000014.7:g.88411122G>A	NCBI36
NG_008126.1:g.55392G>A
NG_008126.2:g.55873G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144596.4:c.1348-1G>A MANE Select	NP_653197.2:n.1348-1G>A
ENST00000380656.7:c.1348-1G>A MANE Select	ENSP00000370031.2:n.1348-1G>A
NM_001288781.1:c.1396-1G>A	NP_001275710.1:n.1396-1G>A
NM_001288782.1:c.754-1G>A	NP_001275711.1:n.754-1G>A
NM_001288783.1:c.631-1G>A	NP_001275712.1:n.631-1G>A
NM_001366535.1:c.1318-2269G>A	NP_001353464.1:n.1318-2269G>A
NM_001366535.2:c.1318-2269G>A	NP_001353464.1:n.1318-2269G>A
NM_001366536.1:c.1228-2269G>A	NP_001353465.1:n.1228-2269G>A
NM_001366536.2:c.1228-2269G>A	NP_001353465.1:n.1228-2269G>A
NM_144596.3:c.1348-1G>A	NP_653197.2:n.1348-1G>A
NM_198309.3:c.1318-1G>A	NP_938051.1:n.1318-1G>A
NM_198310.3:c.1228-1G>A	NP_938052.1:n.1228-1G>A
NR_159362.1:n.1435-1G>A
NR_159362.2:n.1435-1G>A
ENST00000338104.10:c.1396-1G>A	ENSP00000337653.6:n.1396-1G>A
ENST00000345383.9:c.1348-1G>A	ENSP00000339486.6:n.1348-1G>A
ENST00000346301.8:c.1228-1G>A	ENSP00000298324.6:n.1228-1G>A
ENST00000354441.10:c.553-1G>A	ENSP00000346427.6:n.553-1G>A
ENST00000358622.9:c.754-1G>A	ENSP00000351439.5:n.754-1G>A
ENST00000380656.6:c.1348-1G>A	ENSP00000370031.2:n.1348-1G>A
ENST00000536576.5:c.1228-1G>A	ENSP00000445067.2:n.1228-1G>A
ENST00000554686.5:c.1197-2269G>A
ENST00000555057.5:c.*755-1G>A	ENSP00000450951.1:n.*755-1G>A
ENST00000557580.2:c.713-1G>A
ENST00000557580.3:c.713-1G>A	ENSP00000451955.2:n.713-1G>A
ENST00000614125.4:c.1396-1G>A	ENSP00000482306.1:n.1396-1G>A
ENST00000622513.4:c.1318-1G>A	ENSP00000482721.1:n.1318-1G>A
XM_006720035.1:c.1318-1G>A	XP_006720098.1:n.1318-1G>A
XM_006720037.2:c.1228-1G>A	XP_006720100.1:n.1228-1G>A
XM_011536432.1:c.1396-1G>A	XP_011534734.1:n.1396-1G>A
XM_011536433.1:c.1396-2269G>A	XP_011534735.1:n.1396-2269G>A
XM_011536433.2:c.1396-2269G>A	XP_011534735.1:n.1396-2269G>A
XM_011536434.1:c.1306-1G>A	XP_011534736.1:n.1306-1G>A
XM_011536434.2:c.1306-1G>A	XP_011534736.1:n.1306-1G>A
XM_011536435.1:c.631-1G>A	XP_011534737.1:n.631-1G>A
XM_024449477.1:c.631-1G>A	XP_024305245.1:n.631-1G>A