Canonical Allele Identifier: CA9849348
Gene: TTI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.38011689C>A , CM000682.2:g.38011689C>A GRCh38
NC_000020.10:g.36640091C>A , CM000682.1:g.36640091C>A GRCh37
NC_000020.9:g.36073505C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001303457.2:c.2128G>T MANE Select NP_001290386.1:p.Ala710Ser
ENST00000373447.8:c.2128G>T MANE Select ENSP00000362546.3:p.Ala710Ser
NM_001303457.1:c.2128G>T NP_001290386.1:p.Ala710Ser
NM_014657.2:c.2128G>T NP_055472.1:p.Ala710Ser
NM_014657.3:c.2128G>T NP_055472.1:p.Ala710Ser
ENST00000373447.7:c.2128G>T ENSP00000362546.3:p.Ala710Ser
ENST00000373448.6:c.2128G>T ENSP00000362547.2:p.Ala710Ser
ENST00000449821.1:c.2128G>T ENSP00000407270.1:p.Ala710Ser
XM_011529112.1:c.2128G>T XP_011527414.1:p.Ala710Ser
XM_011529113.1:c.2128G>T XP_011527415.1:p.Ala710Ser
XM_011529114.1:c.2128G>T XP_011527416.1:p.Ala710Ser
XM_011529114.2:c.2128G>T XP_011527416.1:p.Ala710Ser
XM_011529115.1:c.2128G>T XP_011527417.1:p.Ala710Ser
XM_017028148.2:c.2128G>T XP_016883637.1:p.Ala710Ser
XR_001754440.2:n.2227G>T
XR_001754441.2:n.2227G>T
XR_001754442.2:n.2227G>T
XR_001754443.2:n.2227G>T
XR_244159.2:n.2234G>T
XR_244159.4:n.2227G>T
XR_936662.1:n.2234G>T
XR_936662.3:n.2227G>T
XR_936663.1:n.2234G>T
XR_936664.1:n.2234G>T