Canonical Allele Identifier: CA264584207

Gene: TTC8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88841494C>T , CM000676.2:g.88841494C>T	GRCh38
NC_000014.8:g.89307838C>T , CM000676.1:g.89307838C>T	GRCh37
NC_000014.7:g.88377591C>T	NCBI36
NG_008126.1:g.21861C>T
NG_008126.2:g.22342C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144596.4:c.559C>T MANE Select	NP_653197.2:p.Gln187Ter
ENST00000380656.7:c.559C>T MANE Select	ENSP00000370031.2:p.Gln187Ter
NM_001288781.1:c.529C>T	NP_001275710.1:p.Gln177Ter
NM_001288782.1:c.-34C>T	NP_001275711.1:n.-34C>T
NM_001288783.1:c.-199+298C>T	NP_001275712.1:n.-199+298C>T
NM_001366535.1:c.529C>T	NP_001353464.1:p.Gln177Ter
NM_001366535.2:c.529C>T	NP_001353464.1:p.Gln177Ter
NM_001366536.1:c.459+298C>T	NP_001353465.1:n.459+298C>T
NM_001366536.2:c.459+298C>T	NP_001353465.1:n.459+298C>T
NM_144596.3:c.559C>T	NP_653197.2:p.Gln187Ter
NM_198309.3:c.529C>T	NP_938051.1:p.Gln177Ter
NM_198310.3:c.459+298C>T	NP_938052.1:n.459+298C>T
NR_159362.1:n.586C>T
NR_159362.2:n.586C>T
ENST00000338104.10:c.529C>T	ENSP00000337653.6:p.Gln177Ter
ENST00000345383.9:c.559C>T	ENSP00000339486.6:p.Gln187Ter
ENST00000346301.8:c.459+298C>T	ENSP00000298324.6:n.459+298C>T
ENST00000354441.10:c.114+16673C>T	ENSP00000346427.6:n.114+16673C>T
ENST00000358622.9:c.-34C>T	ENSP00000351439.5:n.-34C>T
ENST00000380656.6:c.559C>T	ENSP00000370031.2:p.Gln187Ter
ENST00000536576.5:c.459+298C>T	ENSP00000445067.2:n.459+298C>T
ENST00000554686.5:c.428+298C>T
ENST00000555057.5:c.529C>T	ENSP00000450951.1:p.Gln177Ter
ENST00000556077.5:c.*47C>T	ENSP00000451034.1:n.*47C>T
ENST00000556133.1:n.320C>T
ENST00000556567.5:n.814C>T
ENST00000556651.5:c.529C>T	ENSP00000450993.1:p.Gln177Ter
ENST00000557580.2:c.10C>T
ENST00000557580.3:c.10C>T	ENSP00000451955.2:p.Gln4Ter
ENST00000614125.4:c.529C>T	ENSP00000482306.1:p.Gln177Ter
ENST00000622513.4:c.529C>T	ENSP00000482721.1:p.Gln177Ter
XM_006720035.1:c.529C>T	XP_006720098.1:p.Gln177Ter
XM_006720037.2:c.459+298C>T	XP_006720100.1:n.459+298C>T
XM_011536432.1:c.529C>T	XP_011534734.1:p.Gln177Ter
XM_011536433.1:c.529C>T	XP_011534735.1:p.Gln177Ter
XM_011536433.2:c.529C>T	XP_011534735.1:p.Gln177Ter
XM_011536434.1:c.459+298C>T	XP_011534736.1:n.459+298C>T
XM_011536434.2:c.459+298C>T	XP_011534736.1:n.459+298C>T
XM_011536435.1:c.-219C>T	XP_011534737.1:n.-219C>T
XM_024449477.1:c.-219C>T	XP_024305245.1:n.-219C>T