Canonical Allele Identifier: CA9849412

Gene: TTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38012043G>A , CM000682.2:g.38012043G>A	GRCh38
NC_000020.10:g.36640445G>A , CM000682.1:g.36640445G>A	GRCh37
NC_000020.9:g.36073859G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373447.8:c.1774C>T MANE Select	ENSP00000362546.3:p.Leu592Phe
ENST00000373447.7:c.1774C>T	ENSP00000362546.3:p.Leu592Phe
ENST00000373448.6:c.1774C>T	ENSP00000362547.2:p.Leu592Phe
ENST00000449821.1:c.1774C>T	ENSP00000407270.1:p.Leu592Phe
ENST00000487362.1:n.526C>T
NM_001303457.1:c.1774C>T	NP_001290386.1:p.Leu592Phe
NM_014657.2:c.1774C>T	NP_055472.1:p.Leu592Phe
XM_011529112.1:c.1774C>T	XP_011527414.1:p.Leu592Phe
XM_011529113.1:c.1774C>T	XP_011527415.1:p.Leu592Phe
XM_011529114.1:c.1774C>T	XP_011527416.1:p.Leu592Phe
XM_011529115.1:c.1774C>T	XP_011527417.1:p.Leu592Phe
XR_244159.2:n.1880C>T
XR_936662.1:n.1880C>T
XR_936663.1:n.1880C>T
XR_936664.1:n.1880C>T
XM_011529114.2:c.1774C>T	XP_011527416.1:p.Leu592Phe
XM_017028148.2:c.1774C>T	XP_016883637.1:p.Leu592Phe
XR_001754440.2:n.1873C>T
XR_001754441.2:n.1873C>T
XR_001754442.2:n.1873C>T
XR_001754443.2:n.1873C>T
XR_244159.4:n.1873C>T
XR_936662.3:n.1873C>T
NM_001303457.2:c.1774C>T MANE Select	NP_001290386.1:p.Leu592Phe
NM_014657.3:c.1774C>T	NP_055472.1:p.Leu592Phe