Canonical Allele Identifier: CA264565310

Gene: TTC8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88853023G>A , CM000676.2:g.88853023G>A	GRCh38
NC_000014.8:g.89319367G>A , CM000676.1:g.89319367G>A	GRCh37
NC_000014.7:g.88389120G>A	NCBI36
NG_008126.1:g.33390G>A
NG_008126.2:g.33871G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144596.4:c.677G>A MANE Select	NP_653197.2:p.Trp226Ter
ENST00000380656.7:c.677G>A MANE Select	ENSP00000370031.2:p.Trp226Ter
NM_001288781.1:c.725G>A	NP_001275710.1:p.Trp242Ter
NM_001288782.1:c.83G>A	NP_001275711.1:p.Trp28Ter
NM_001288783.1:c.-41G>A	NP_001275712.1:n.-41G>A
NM_001366535.1:c.647G>A	NP_001353464.1:p.Trp216Ter
NM_001366535.2:c.647G>A	NP_001353464.1:p.Trp216Ter
NM_001366536.1:c.557G>A	NP_001353465.1:p.Trp186Ter
NM_001366536.2:c.557G>A	NP_001353465.1:p.Trp186Ter
NM_144596.3:c.677G>A	NP_653197.2:p.Trp226Ter
NM_198309.3:c.647G>A	NP_938051.1:p.Trp216Ter
NM_198310.3:c.557G>A	NP_938052.1:p.Trp186Ter
NR_159362.1:n.764G>A
NR_159362.2:n.764G>A
ENST00000338104.10:c.725G>A	ENSP00000337653.6:p.Trp242Ter
ENST00000345383.9:c.677G>A	ENSP00000339486.6:p.Trp226Ter
ENST00000346301.8:c.557G>A	ENSP00000298324.6:p.Trp186Ter
ENST00000354441.10:c.115-17036G>A	ENSP00000346427.6:n.115-17036G>A
ENST00000358622.9:c.83G>A	ENSP00000351439.5:p.Trp28Ter
ENST00000380656.6:c.677G>A	ENSP00000370031.2:p.Trp226Ter
ENST00000536576.5:c.557G>A	ENSP00000445067.2:p.Trp186Ter
ENST00000554686.5:c.526G>A
ENST00000555057.5:c.*84G>A	ENSP00000450951.1:n.*84G>A
ENST00000556077.5:c.*165G>A	ENSP00000451034.1:n.*165G>A
ENST00000556133.1:n.498G>A
ENST00000556567.5:n.932G>A
ENST00000557580.2:c.76-4167G>A
ENST00000557580.3:c.76-4167G>A	ENSP00000451955.2:n.76-4167G>A
ENST00000614125.4:c.725G>A	ENSP00000482306.1:p.Trp242Ter
ENST00000622513.4:c.647G>A	ENSP00000482721.1:p.Trp216Ter
XM_006720035.1:c.647G>A	XP_006720098.1:p.Trp216Ter
XM_006720037.2:c.557G>A	XP_006720100.1:p.Trp186Ter
XM_011536432.1:c.725G>A	XP_011534734.1:p.Trp242Ter
XM_011536433.1:c.725G>A	XP_011534735.1:p.Trp242Ter
XM_011536433.2:c.725G>A	XP_011534735.1:p.Trp242Ter
XM_011536434.1:c.635G>A	XP_011534736.1:p.Trp212Ter
XM_011536434.2:c.635G>A	XP_011534736.1:p.Trp212Ter
XM_011536435.1:c.-41G>A	XP_011534737.1:n.-41G>A
XM_024449477.1:c.-41G>A	XP_024305245.1:n.-41G>A