Canonical Allele Identifier: CA408857113

Gene: TTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.38006259A>G , CM000682.2:g.38006259A>G	GRCh38
NC_000020.10:g.36634661A>G , CM000682.1:g.36634661A>G	GRCh37
NC_000020.9:g.36068075A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373447.8:c.2441T>C MANE Select	ENSP00000362546.3:p.Leu814Pro
ENST00000373447.7:c.2441T>C	ENSP00000362546.3:p.Leu814Pro
ENST00000373448.6:c.2441T>C	ENSP00000362547.2:p.Leu814Pro
ENST00000449821.1:c.2441T>C	ENSP00000407270.1:p.Leu814Pro
ENST00000620381.1:c.13T>C
NM_001303457.1:c.2441T>C	NP_001290386.1:p.Leu814Pro
NM_014657.2:c.2441T>C	NP_055472.1:p.Leu814Pro
XM_011529112.1:c.2441T>C	XP_011527414.1:p.Leu814Pro
XM_011529113.1:c.2441T>C	XP_011527415.1:p.Leu814Pro
XM_011529114.1:c.2441T>C	XP_011527416.1:p.Leu814Pro
XM_011529115.1:c.2441T>C	XP_011527417.1:p.Leu814Pro
XR_244159.2:n.2547T>C
XR_936662.1:n.2547T>C
XR_936663.1:n.2547T>C
XR_936664.1:n.2547T>C
XM_011529114.2:c.2441T>C	XP_011527416.1:p.Leu814Pro
XM_017028148.2:c.2441T>C	XP_016883637.1:p.Leu814Pro
XR_001754440.2:n.2540T>C
XR_001754441.2:n.2540T>C
XR_001754442.2:n.2540T>C
XR_001754443.2:n.2540T>C
XR_244159.4:n.2540T>C
XR_936662.3:n.2540T>C
NM_001303457.2:c.2441T>C MANE Select	NP_001290386.1:p.Leu814Pro
NM_014657.3:c.2441T>C	NP_055472.1:p.Leu814Pro