Canonical Allele Identifier: CA390552531

Gene: TTC8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88871724G>C , CM000676.2:g.88871724G>C	GRCh38
NC_000014.8:g.89338068G>C , CM000676.1:g.89338068G>C	GRCh37
NC_000014.7:g.88407821G>C	NCBI36
NG_008126.1:g.52091G>C
NG_008126.2:g.52572G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144596.4:c.1224+1G>C MANE Select	NP_653197.2:n.1224+1G>C
ENST00000380656.7:c.1224+1G>C MANE Select	ENSP00000370031.2:n.1224+1G>C
NM_001288781.1:c.1272+1G>C	NP_001275710.1:n.1272+1G>C
NM_001288782.1:c.630+1G>C	NP_001275711.1:n.630+1G>C
NM_001288783.1:c.507+1G>C	NP_001275712.1:n.507+1G>C
NM_001366535.1:c.1194+1G>C	NP_001353464.1:n.1194+1G>C
NM_001366535.2:c.1194+1G>C	NP_001353464.1:n.1194+1G>C
NM_001366536.1:c.1104+1G>C	NP_001353465.1:n.1104+1G>C
NM_001366536.2:c.1104+1G>C	NP_001353465.1:n.1104+1G>C
NM_144596.3:c.1224+1G>C	NP_653197.2:n.1224+1G>C
NM_198309.3:c.1194+1G>C	NP_938051.1:n.1194+1G>C
NM_198310.3:c.1104+1G>C	NP_938052.1:n.1104+1G>C
NR_159362.1:n.1311+1G>C
NR_159362.2:n.1311+1G>C
ENST00000338104.10:c.1272+1G>C	ENSP00000337653.6:n.1272+1G>C
ENST00000345383.9:c.1224+1G>C	ENSP00000339486.6:n.1224+1G>C
ENST00000346301.8:c.1104+1G>C	ENSP00000298324.6:n.1104+1G>C
ENST00000354441.10:c.429+1G>C	ENSP00000346427.6:n.429+1G>C
ENST00000358622.9:c.630+1G>C	ENSP00000351439.5:n.630+1G>C
ENST00000380656.6:c.1224+1G>C	ENSP00000370031.2:n.1224+1G>C
ENST00000536576.5:c.1104+1G>C	ENSP00000445067.2:n.1104+1G>C
ENST00000554686.5:c.1073+1G>C
ENST00000555057.5:c.*631+1G>C	ENSP00000450951.1:n.*631+1G>C
ENST00000557580.2:c.589+1G>C
ENST00000557580.3:c.589+1G>C	ENSP00000451955.2:n.589+1G>C
ENST00000614125.4:c.1272+1G>C	ENSP00000482306.1:n.1272+1G>C
ENST00000622513.4:c.1194+1G>C	ENSP00000482721.1:n.1194+1G>C
XM_006720035.1:c.1194+1G>C	XP_006720098.1:n.1194+1G>C
XM_006720037.2:c.1104+1G>C	XP_006720100.1:n.1104+1G>C
XM_011536432.1:c.1272+1G>C	XP_011534734.1:n.1272+1G>C
XM_011536433.1:c.1272+1G>C	XP_011534735.1:n.1272+1G>C
XM_011536433.2:c.1272+1G>C	XP_011534735.1:n.1272+1G>C
XM_011536434.1:c.1182+1G>C	XP_011534736.1:n.1182+1G>C
XM_011536434.2:c.1182+1G>C	XP_011534736.1:n.1182+1G>C
XM_011536435.1:c.507+1G>C	XP_011534737.1:n.507+1G>C
XM_024449477.1:c.507+1G>C	XP_024305245.1:n.507+1G>C