Canonical Allele Identifier: CA314325192

Gene: TTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37983518C>T , CM000682.2:g.37983518C>T	GRCh38
NC_000020.10:g.36611920C>T , CM000682.1:g.36611920C>T	GRCh37
NC_000020.9:g.36045334C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373447.8:c.3208G>A MANE Select	ENSP00000362546.3:p.Ala1070Thr
ENST00000373447.7:c.3208G>A	ENSP00000362546.3:p.Ala1070Thr
ENST00000373448.6:c.3208G>A	ENSP00000362547.2:p.Ala1070Thr
ENST00000449821.1:c.3208G>A	ENSP00000407270.1:p.Ala1070Thr
NM_001303457.1:c.3208G>A	NP_001290386.1:p.Ala1070Thr
NM_014657.2:c.3208G>A	NP_055472.1:p.Ala1070Thr
XR_244159.2:n.3109G>A
XR_001754441.2:n.3158G>A
XR_001754442.2:n.3324G>A
XR_001754443.2:n.3119G>A
XR_244159.4:n.3102G>A
XR_936662.3:n.3433G>A
NM_001303457.2:c.3208G>A MANE Select	NP_001290386.1:p.Ala1070Thr
NM_014657.3:c.3208G>A	NP_055472.1:p.Ala1070Thr