Canonical Allele Identifier: CA408853288

Gene: TTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37983632G>A , CM000682.2:g.37983632G>A	GRCh38
NC_000020.10:g.36612034G>A , CM000682.1:g.36612034G>A	GRCh37
NC_000020.9:g.36045448G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373447.8:c.3094C>T MANE Select	ENSP00000362546.3:p.Leu1032Phe
ENST00000373447.7:c.3094C>T	ENSP00000362546.3:p.Leu1032Phe
ENST00000373448.6:c.3094C>T	ENSP00000362547.2:p.Leu1032Phe
ENST00000449821.1:c.3094C>T	ENSP00000407270.1:p.Leu1032Phe
NM_001303457.1:c.3094C>T	NP_001290386.1:p.Leu1032Phe
NM_014657.2:c.3094C>T	NP_055472.1:p.Leu1032Phe
XR_244159.2:n.2995C>T
XR_936662.1:n.3326C>T
XR_936663.1:n.3121C>T
XR_001754441.2:n.3044C>T
XR_001754442.2:n.3210C>T
XR_001754443.2:n.3005C>T
XR_244159.4:n.2988C>T
XR_936662.3:n.3319C>T
NM_001303457.2:c.3094C>T MANE Select	NP_001290386.1:p.Leu1032Phe
NM_014657.3:c.3094C>T	NP_055472.1:p.Leu1032Phe