Canonical Allele Identifier: CA9849013
Gene: TTI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37983493G>A , CM000682.2:g.37983493G>A GRCh38
NC_000020.10:g.36611895G>A , CM000682.1:g.36611895G>A GRCh37
NC_000020.9:g.36045309G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373447.8:c.3233C>T MANE Select ENSP00000362546.3:p.Thr1078Met
ENST00000373447.7:c.3233C>T ENSP00000362546.3:p.Thr1078Met
ENST00000373448.6:c.3233C>T ENSP00000362547.2:p.Thr1078Met
ENST00000449821.1:c.3233C>T ENSP00000407270.1:p.Thr1078Met
NM_001303457.1:c.3233C>T NP_001290386.1:p.Thr1078Met
NM_014657.2:c.3233C>T NP_055472.1:p.Thr1078Met
XR_244159.2:n.3134C>T
XR_001754441.2:n.3183C>T
XR_001754442.2:n.3349C>T
XR_001754443.2:n.3144C>T
XR_244159.4:n.3127C>T
XR_936662.3:n.3458C>T
NM_001303457.2:c.3233C>T MANE Select NP_001290386.1:p.Thr1078Met
NM_014657.3:c.3233C>T NP_055472.1:p.Thr1078Met