Canonical Allele Identifier: CA10641214

Gene: TTC8

Linked Data

• ClinVar Variation Id: 314805
• ClinVar RCV Id: RCV000260562 ; RCV000332152 ; RCV002520928
• dbSNP Id: rs886050878
• MyVariant Identifiers: chr14:g.89343697C>T (hg19) ; chr14:g.88877353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88877353C>T , CM000676.2:g.88877353C>T	GRCh38
NC_000014.8:g.89343697C>T , CM000676.1:g.89343697C>T	GRCh37
NC_000014.7:g.88413450C>T	NCBI36
NG_008126.1:g.57720C>T
NG_008126.2:g.58201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.1491C>T MANE Select	ENSP00000370031.2:p.Asp497=
ENST00000338104.10:c.1539C>T	ENSP00000337653.6:p.Asp513=
ENST00000345383.9:c.1491C>T	ENSP00000339486.6:p.Asp497=
ENST00000346301.8:c.1371C>T	ENSP00000298324.6:p.Asp457=
ENST00000354441.10:c.696C>T	ENSP00000346427.6:p.Asp232=
ENST00000358622.9:c.897C>T	ENSP00000351439.5:p.Asp299=
ENST00000380656.6:c.1491C>T	ENSP00000370031.2:p.Asp497=
ENST00000536576.5:c.1371C>T	ENSP00000445067.2:p.Asp457=
ENST00000554686.5:c.1256C>T
ENST00000555057.5:c.*898C>T	ENSP00000450951.1:n.*898C>T
ENST00000614125.4:c.1539C>T	ENSP00000482306.1:p.Asp513=
ENST00000622513.4:c.1461C>T	ENSP00000482721.1:p.Asp487=
NM_001288781.1:c.1539C>T	NP_001275710.1:p.Asp513=
NM_001288782.1:c.897C>T	NP_001275711.1:p.Asp299=
NM_001288783.1:c.774C>T	NP_001275712.1:p.Asp258=
NM_144596.3:c.1491C>T	NP_653197.2:p.Asp497=
NM_198309.3:c.1461C>T	NP_938051.1:p.Asp487=
NM_198310.3:c.1371C>T	NP_938052.1:p.Asp457=
XM_006720035.1:c.1461C>T	XP_006720098.1:p.Asp487=
XM_006720037.2:c.1371C>T	XP_006720100.1:p.Asp457=
XM_011536432.1:c.1539C>T	XP_011534734.1:p.Asp513=
XM_011536433.1:c.1455C>T	XP_011534735.1:p.Asp485=
XM_011536434.1:c.1449C>T	XP_011534736.1:p.Asp483=
XM_011536435.1:c.774C>T	XP_011534737.1:p.Asp258=
NM_001366535.1:c.1377C>T	NP_001353464.1:p.Asp459=
NM_001366536.1:c.1287C>T	NP_001353465.1:p.Asp429=
NR_159362.1:n.1578C>T
XM_011536433.2:c.1455C>T	XP_011534735.1:p.Asp485=
XM_011536434.2:c.1449C>T	XP_011534736.1:p.Asp483=
XM_024449477.1:c.774C>T	XP_024305245.1:p.Asp258=
NM_001366535.2:c.1377C>T	NP_001353464.1:p.Asp459=
NM_001366536.2:c.1287C>T	NP_001353465.1:p.Asp429=
NR_159362.2:n.1578C>T
NM_144596.4:c.1491C>T MANE Select	NP_653197.2:p.Asp497=