Canonical Allele Identifier: CA487530732
Gene: TTC8 HGNC NCBI

Linked Data

dbSNP Id: rs876661403

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.88872452G>A , CM000676.2:g.88872452G>A GRCh38
NC_000014.8:g.89338796G>A , CM000676.1:g.89338796G>A GRCh37
NC_000014.7:g.88408549G>A NCBI36
NG_008126.1:g.52819G>A
NG_008126.2:g.53300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380656.7:c.1347G>A MANE Select ENSP00000370031.2:p.Gln449=
ENST00000557580.3:c.712G>A ENSP00000451955.2:n.712G>A
ENST00000338104.10:c.1395G>A ENSP00000337653.6:p.Gln465=
ENST00000345383.9:c.1347G>A ENSP00000339486.6:p.Gln449=
ENST00000346301.8:c.1227G>A ENSP00000298324.6:p.Gln409=
ENST00000354441.10:c.552G>A ENSP00000346427.6:p.Gln184=
ENST00000358622.9:c.753G>A ENSP00000351439.5:p.Gln251=
ENST00000380656.6:c.1347G>A ENSP00000370031.2:p.Gln449=
ENST00000536576.5:c.1227G>A ENSP00000445067.2:p.Gln409=
ENST00000554686.5:c.1196G>A
ENST00000555057.5:c.*754G>A ENSP00000450951.1:n.*754G>A
ENST00000557580.2:c.712G>A
ENST00000614125.4:c.1395G>A ENSP00000482306.1:p.Gln465=
ENST00000622513.4:c.1317G>A ENSP00000482721.1:p.Gln439=
NM_001288781.1:c.1395G>A NP_001275710.1:p.Gln465=
NM_001288782.1:c.753G>A NP_001275711.1:p.Gln251=
NM_001288783.1:c.630G>A NP_001275712.1:p.Gln210=
NM_144596.3:c.1347G>A NP_653197.2:p.Gln449=
NM_198309.3:c.1317G>A NP_938051.1:p.Gln439=
NM_198310.3:c.1227G>A NP_938052.1:p.Gln409=
XM_006720035.1:c.1317G>A XP_006720098.1:p.Gln439=
XM_006720037.2:c.1227G>A XP_006720100.1:p.Gln409=
XM_011536432.1:c.1395G>A XP_011534734.1:p.Gln465=
XM_011536433.1:c.1395G>A XP_011534735.1:p.Gln465=
XM_011536434.1:c.1305G>A XP_011534736.1:p.Gln435=
XM_011536435.1:c.630G>A XP_011534737.1:p.Gln210=
NM_001366535.1:c.1317G>A NP_001353464.1:p.Gln439=
NM_001366536.1:c.1227G>A NP_001353465.1:p.Gln409=
NR_159362.1:n.1434G>A
XM_011536433.2:c.1395G>A XP_011534735.1:p.Gln465=
XM_011536434.2:c.1305G>A XP_011534736.1:p.Gln435=
XM_024449477.1:c.630G>A XP_024305245.1:p.Gln210=
NM_001366535.2:c.1317G>A NP_001353464.1:p.Gln439=
NM_001366536.2:c.1227G>A NP_001353465.1:p.Gln409=
NR_159362.2:n.1434G>A
NM_144596.4:c.1347G>A MANE Select NP_653197.2:p.Gln449=