Canonical Allele Identifier: CA5250078

Gene: TTC16

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127726327C>T , CM000671.2:g.127726327C>T	GRCh38
NC_000009.11:g.130488606C>T , CM000671.1:g.130488606C>T	GRCh37
NC_000009.10:g.129528427C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144965.3:c.1348C>T MANE Select	NP_659402.1:p.Arg450Trp
ENST00000373289.4:c.1348C>T MANE Select	ENSP00000362386.3:p.Arg450Trp
NM_001317037.1:c.1309C>T	NP_001303966.1:p.Arg437Trp
NM_001317037.2:c.1309C>T	NP_001303966.1:p.Arg437Trp
NM_144965.1:c.1348C>T	NP_659402.1:p.Arg450Trp
NM_144965.2:c.1348C>T	NP_659402.1:p.Arg450Trp
ENST00000373289.3:c.1348C>T	ENSP00000362386.3:p.Arg450Trp
ENST00000488285.1:n.1189C>T
ENST00000489226.5:n.666C>T
XM_005251733.1:c.820C>T	XP_005251790.1:p.Arg274Trp
XM_005251733.2:c.820C>T	XP_005251790.1:p.Arg274Trp
XM_005251734.1:c.697C>T	XP_005251791.1:p.Arg233Trp
XM_005251734.2:c.697C>T	XP_005251791.1:p.Arg233Trp
XM_006716969.2:c.1183C>T	XP_006717032.2:p.Arg395Trp
XM_006716970.1:c.814C>T	XP_006717033.1:p.Arg272Trp
XM_006716970.2:c.814C>T	XP_006717033.1:p.Arg272Trp
XM_006716971.1:c.814C>T	XP_006717034.1:p.Arg272Trp
XM_006716971.2:c.814C>T	XP_006717034.1:p.Arg272Trp
XM_011518283.1:c.1348C>T	XP_011516585.1:p.Arg450Trp
XM_011518283.2:c.1348C>T	XP_011516585.1:p.Arg450Trp
XM_011518284.1:c.1204C>T	XP_011516586.1:p.Arg402Trp
XM_011518284.2:c.1204C>T	XP_011516586.1:p.Arg402Trp
XM_011518285.1:c.1206C>T	XP_011516587.1:p.Ala402=
XM_011518285.2:c.1206C>T	XP_011516587.1:p.Ala402=
XM_011518286.1:c.1176C>T	XP_011516588.1:p.Ala392=
XM_011518287.1:c.991C>T	XP_011516589.1:p.Arg331Trp
XM_011518288.1:c.1062C>T	XP_011516590.1:p.Ala354=
XM_011518288.2:c.1062C>T	XP_011516590.1:p.Ala354=
XM_011518289.1:c.814C>T	XP_011516591.1:p.Arg272Trp
XM_011518289.3:c.814C>T	XP_011516591.1:p.Arg272Trp
XM_011518290.1:c.814C>T	XP_011516592.1:p.Arg272Trp
XM_011518290.2:c.814C>T	XP_011516592.1:p.Arg272Trp
XM_011518291.1:c.882C>T	XP_011516593.1:p.Ala294=
XM_011518291.2:c.882C>T	XP_011516593.1:p.Ala294=
XM_011518292.1:c.882C>T	XP_011516594.1:p.Ala294=
XM_011518292.2:c.882C>T	XP_011516594.1:p.Ala294=
XM_011518293.1:c.1348C>T	XP_011516595.1:p.Arg450Trp
XM_011518293.2:c.1348C>T	XP_011516595.1:p.Arg450Trp
XM_011518294.1:c.1348C>T	XP_011516596.1:p.Arg450Trp
XM_011518294.3:c.1348C>T	XP_011516596.1:p.Arg450Trp
XM_011518295.1:c.1348C>T	XP_011516597.1:p.Arg450Trp
XM_011518295.2:c.1348C>T	XP_011516597.1:p.Arg450Trp
XM_011518296.1:c.520C>T	XP_011516598.1:p.Arg174Trp
XM_011518297.1:c.1348C>T	XP_011516599.1:p.Arg450Trp
XM_011518297.2:c.1348C>T	XP_011516599.1:p.Arg450Trp
XR_001746193.2:n.1415C>T
XR_002956761.1:n.1415C>T
XR_929722.1:n.1428C>T
XR_929722.2:n.1415C>T