Canonical Allele Identifier: CA2130031084
Community Standard Title: NM_001310135.5(TTC6):c.4067T= (p.Ile1356=)
Gene: TTC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.37804717T= , CM000676.2:g.37804717T= GRCh38
NC_000014.8:g.38273922T= , CM000676.1:g.38273922T= GRCh37
NC_000014.7:g.37343673T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001310135.5:c.4067T= MANE Select NP_001297064.2:p.Ile1356=
ENST00000553443.6:c.4067T= MANE Select ENSP00000451131.1:p.Ile1356=
NM_001310135.1:c.4115T= NP_001297064.1:p.Ile1372=
NM_001310135.2:c.4115T= NP_001297064.1:p.Ile1372=
NM_001310135.3:c.4115T= NP_001297064.1:p.Ile1372=
NM_001368142.1:c.260T= NP_001355071.1:p.Ile87=
NM_001368142.2:c.260T= NP_001355071.1:p.Ile87=
ENST00000267368.11:c.260T= ENSP00000267368.7:p.Ile87=
ENST00000382320.4:c.209T= ENSP00000371757.4:p.Ile70=
ENST00000476979.5:c.260T= ENSP00000417788.1:p.Ile87=
ENST00000478811.6:c.260T= ENSP00000419204.2:p.Ile87=
ENST00000533625.5:c.*1062+65562T= ENSP00000451566.1:n.*1062+65562T=
ENST00000553443.5:c.4067T= ENSP00000451131.1:p.Ile1356=
XM_011537430.1:c.2672T= XP_011535732.1:p.Ile891=
XM_011537430.2:c.2672T= XP_011535732.1:p.Ile891=
XM_011537431.1:c.2354T= XP_011535733.1:p.Ile785=
XM_011537431.2:c.2354T= XP_011535733.1:p.Ile785=
XM_017021254.1:c.4115T= XP_016876743.1:p.Ile1372=
XM_017021255.1:c.4078-2603T= XP_016876744.1:n.4078-2603T=
XM_017021256.1:c.3116T= XP_016876745.1:p.Ile1039=
XM_024449560.1:c.4115T= XP_024305328.1:p.Ile1372=
XR_943762.1:n.4972T=
XR_943762.2:n.4972T=