Canonical Allele Identifier: CA390553557

Gene: TTC8

Linked Data

• MyVariant Identifiers: chr14:g.89338796G>T (hg19) ; chr14:g.88872452G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.1347G>T MANE Select	ENSP00000370031.2:p.Gln449His
ENST00000557580.3:c.712G>T	ENSP00000451955.2:n.712G>T
ENST00000338104.10:c.1395G>T	ENSP00000337653.6:p.Gln465His
ENST00000345383.9:c.1347G>T	ENSP00000339486.6:p.Gln449His
ENST00000346301.8:c.1227G>T	ENSP00000298324.6:p.Gln409His
ENST00000354441.10:c.552G>T	ENSP00000346427.6:p.Gln184His
ENST00000358622.9:c.753G>T	ENSP00000351439.5:p.Gln251His
ENST00000380656.6:c.1347G>T	ENSP00000370031.2:p.Gln449His
ENST00000536576.5:c.1227G>T	ENSP00000445067.2:p.Gln409His
ENST00000554686.5:c.1196G>T
ENST00000555057.5:c.*754G>T	ENSP00000450951.1:n.*754G>T
ENST00000557580.2:c.712G>T
ENST00000614125.4:c.1395G>T	ENSP00000482306.1:p.Gln465His
ENST00000622513.4:c.1317G>T	ENSP00000482721.1:p.Gln439His
NM_001288781.1:c.1395G>T	NP_001275710.1:p.Gln465His
NM_001288782.1:c.753G>T	NP_001275711.1:p.Gln251His
NM_001288783.1:c.630G>T	NP_001275712.1:p.Gln210His
NM_144596.3:c.1347G>T	NP_653197.2:p.Gln449His
NM_198309.3:c.1317G>T	NP_938051.1:p.Gln439His
NM_198310.3:c.1227G>T	NP_938052.1:p.Gln409His
XM_006720035.1:c.1317G>T	XP_006720098.1:p.Gln439His
XM_006720037.2:c.1227G>T	XP_006720100.1:p.Gln409His
XM_011536432.1:c.1395G>T	XP_011534734.1:p.Gln465His
XM_011536433.1:c.1395G>T	XP_011534735.1:p.Gln465His
XM_011536434.1:c.1305G>T	XP_011534736.1:p.Gln435His
XM_011536435.1:c.630G>T	XP_011534737.1:p.Gln210His
NM_001366535.1:c.1317G>T	NP_001353464.1:p.Gln439His
NM_001366536.1:c.1227G>T	NP_001353465.1:p.Gln409His
NR_159362.1:n.1434G>T
XM_011536433.2:c.1395G>T	XP_011534735.1:p.Gln465His
XM_011536434.2:c.1305G>T	XP_011534736.1:p.Gln435His
XM_024449477.1:c.630G>T	XP_024305245.1:p.Gln210His
NM_001366535.2:c.1317G>T	NP_001353464.1:p.Gln439His
NM_001366536.2:c.1227G>T	NP_001353465.1:p.Gln409His
NR_159362.2:n.1434G>T
NM_144596.4:c.1347G>T MANE Select	NP_653197.2:p.Gln449His