Canonical Allele Identifier: CA475031414
Gene: LTBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65546464C>T , CM000673.2:g.65546464C>T GRCh38
NC_000011.9:g.65313935C>T , CM000673.1:g.65313935C>T GRCh37
NC_000011.8:g.65070511C>T NCBI36
NG_016437.1:g.16765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526825.6:c.*1594G>A ENSP00000435146.2:n.*1594G>A
ENST00000526927.6:c.1476G>A ENSP00000431219.2:p.Ala492=
ENST00000530866.6:c.2064G>A ENSP00000435276.2:p.Ala688=
ENST00000685178.1:n.2003G>A
ENST00000688764.1:n.854G>A
ENST00000689505.1:c.2208G>A ENSP00000510401.1:p.Ala736=
ENST00000301873.11:c.2331G>A MANE Select ENSP00000301873.5:p.Ala777=
ENST00000301873.9:c.2331G>A ENSP00000301873.5:p.Ala777=
ENST00000322147.8:c.2331G>A ENSP00000326647.4:p.Ala777=
ENST00000526927.5:c.1282G>A
ENST00000527339.1:c.351G>A ENSP00000432121.1:p.Ala117=
ENST00000528516.5:c.*1976G>A ENSP00000432350.1:n.*1976G>A
ENST00000529189.5:c.-661G>A ENSP00000434406.1:n.-661G>A
ENST00000530866.5:c.2064G>A ENSP00000435276.1:p.Ala688=
ENST00000532932.5:c.621G>A ENSP00000435530.1:p.Ala207=
ENST00000536982.5:c.-661G>A ENSP00000441912.2:n.-661G>A
NM_001130144.2:c.2331G>A NP_001123616.1:p.Ala777=
NM_001164266.1:c.1980G>A NP_001157738.1:p.Ala660=
NM_021070.4:c.2331G>A NP_066548.2:p.Ala777=
XM_011545032.1:c.2358G>A XP_011543334.1:p.Ala786=
XM_011545033.1:c.2358G>A XP_011543335.1:p.Ala786=
XR_949928.1:n.2758G>A
XM_011545032.2:c.2358G>A XP_011543334.1:p.Ala786=
XM_011545033.3:c.2358G>A XP_011543335.1:p.Ala786=
XM_017017737.2:c.2358G>A XP_016873226.1:p.Ala786=
XR_001747875.2:n.2781G>A
XR_949928.3:n.2781G>A
NM_001130144.3:c.2331G>A MANE Select NP_001123616.1:p.Ala777=