Canonical Allele Identifier: CA390549426
Community Standard Title: NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)
Gene: TTC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.88870098G>T , CM000676.2:g.88870098G>T GRCh38
NC_000014.8:g.89336442G>T , CM000676.1:g.89336442G>T GRCh37
NC_000014.7:g.88406195G>T NCBI36
NG_008126.1:g.50465G>T
NG_008126.2:g.50946G>T

Transcript Alleles

HGVS Amino-acid Change
NM_144596.4:c.949G>T MANE Select NP_653197.2:p.Glu317Ter
ENST00000380656.7:c.949G>T MANE Select ENSP00000370031.2:p.Glu317Ter
NM_001288781.1:c.997G>T NP_001275710.1:p.Glu333Ter
NM_001288782.1:c.355G>T NP_001275711.1:p.Glu119Ter
NM_001288783.1:c.232G>T NP_001275712.1:p.Glu78Ter
NM_001366535.1:c.919G>T NP_001353464.1:p.Glu307Ter
NM_001366535.2:c.919G>T NP_001353464.1:p.Glu307Ter
NM_001366536.1:c.829G>T NP_001353465.1:p.Glu277Ter
NM_001366536.2:c.829G>T NP_001353465.1:p.Glu277Ter
NM_144596.3:c.949G>T NP_653197.2:p.Glu317Ter
NM_198309.3:c.919G>T NP_938051.1:p.Glu307Ter
NM_198310.3:c.829G>T NP_938052.1:p.Glu277Ter
NR_159362.1:n.1036G>T
NR_159362.2:n.1036G>T
ENST00000338104.10:c.997G>T ENSP00000337653.6:p.Glu333Ter
ENST00000345383.9:c.949G>T ENSP00000339486.6:p.Glu317Ter
ENST00000346301.8:c.829G>T ENSP00000298324.6:p.Glu277Ter
ENST00000354441.10:c.154G>T ENSP00000346427.6:p.Glu52Ter
ENST00000358622.9:c.355G>T ENSP00000351439.5:p.Glu119Ter
ENST00000380656.6:c.949G>T ENSP00000370031.2:p.Glu317Ter
ENST00000536576.5:c.829G>T ENSP00000445067.2:p.Glu277Ter
ENST00000554686.5:c.798G>T
ENST00000555057.5:c.*356G>T ENSP00000450951.1:n.*356G>T
ENST00000557580.2:c.314G>T
ENST00000557580.3:c.314G>T ENSP00000451955.2:n.314G>T
ENST00000614125.4:c.997G>T ENSP00000482306.1:p.Glu333Ter
ENST00000622513.4:c.919G>T ENSP00000482721.1:p.Glu307Ter
XM_006720035.1:c.919G>T XP_006720098.1:p.Glu307Ter
XM_006720037.2:c.829G>T XP_006720100.1:p.Glu277Ter
XM_011536432.1:c.997G>T XP_011534734.1:p.Glu333Ter
XM_011536433.1:c.997G>T XP_011534735.1:p.Glu333Ter
XM_011536433.2:c.997G>T XP_011534735.1:p.Glu333Ter
XM_011536434.1:c.907G>T XP_011534736.1:p.Glu303Ter
XM_011536434.2:c.907G>T XP_011534736.1:p.Glu303Ter
XM_011536435.1:c.232G>T XP_011534737.1:p.Glu78Ter
XM_024449477.1:c.232G>T XP_024305245.1:p.Glu78Ter