Canonical Allele Identifier: CA408853911

Gene: TTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37996435T>G , CM000682.2:g.37996435T>G	GRCh38
NC_000020.10:g.36624837T>G , CM000682.1:g.36624837T>G	GRCh37
NC_000020.9:g.36058251T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001303457.2:c.3026A>C MANE Select	NP_001290386.1:p.Asp1009Ala
ENST00000373447.8:c.3026A>C MANE Select	ENSP00000362546.3:p.Asp1009Ala
NM_001303457.1:c.3026A>C	NP_001290386.1:p.Asp1009Ala
NM_014657.2:c.3026A>C	NP_055472.1:p.Asp1009Ala
NM_014657.3:c.3026A>C	NP_055472.1:p.Asp1009Ala
ENST00000373447.7:c.3026A>C	ENSP00000362546.3:p.Asp1009Ala
ENST00000373448.6:c.3026A>C	ENSP00000362547.2:p.Asp1009Ala
ENST00000449821.1:c.3026A>C	ENSP00000407270.1:p.Asp1009Ala
ENST00000473288.1:n.485A>C
XM_011529114.1:c.*38A>C	XP_011527416.1:n.*38A>C
XM_011529114.2:c.*38A>C	XP_011527416.1:n.*38A>C
XM_017028148.2:c.3026A>C	XP_016883637.1:p.Asp1009Ala
XR_001754440.2:n.2920A>C
XR_001754441.2:n.2976A>C
XR_001754442.2:n.3142A>C
XR_001754443.2:n.2937A>C
XR_244159.2:n.2927A>C
XR_244159.4:n.2920A>C
XR_936662.1:n.3132A>C
XR_936662.3:n.3125A>C
XR_936663.1:n.2927A>C