Canonical Allele Identifier: CA381271264
Gene: LTBP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65547702G>A , CM000673.2:g.65547702G>A GRCh38
NC_000011.9:g.65315173G>A , CM000673.1:g.65315173G>A GRCh37
NC_000011.8:g.65071749G>A NCBI36
NG_016437.1:g.15527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526825.6:c.*1229C>T ENSP00000435146.2:n.*1229C>T
ENST00000526927.6:c.1111C>T ENSP00000431219.2:p.Arg371Cys
ENST00000530866.6:c.1699C>T ENSP00000435276.2:p.Arg567Cys
ENST00000685178.1:n.1638C>T
ENST00000688764.1:n.489C>T
ENST00000689505.1:c.1843C>T ENSP00000510401.1:p.Arg615Cys
ENST00000301873.11:c.1966C>T MANE Select ENSP00000301873.5:p.Arg656Cys
ENST00000301873.9:c.1966C>T ENSP00000301873.5:p.Arg656Cys
ENST00000322147.8:c.1966C>T ENSP00000326647.4:p.Arg656Cys
ENST00000526927.5:c.917C>T
ENST00000528516.5:c.*1611C>T ENSP00000432350.1:n.*1611C>T
ENST00000530866.5:c.1699C>T ENSP00000435276.1:p.Arg567Cys
ENST00000532932.5:c.256C>T ENSP00000435530.1:p.Arg86Cys
ENST00000536982.5:c.-1026C>T ENSP00000441912.2:n.-1026C>T
NM_001130144.2:c.1966C>T NP_001123616.1:p.Arg656Cys
NM_001164266.1:c.1615C>T NP_001157738.1:p.Arg539Cys
NM_021070.4:c.1966C>T NP_066548.2:p.Arg656Cys
XM_011545032.1:c.1993C>T XP_011543334.1:p.Arg665Cys
XM_011545033.1:c.1993C>T XP_011543335.1:p.Arg665Cys
XR_949928.1:n.2393C>T
XM_011545032.2:c.1993C>T XP_011543334.1:p.Arg665Cys
XM_011545033.3:c.1993C>T XP_011543335.1:p.Arg665Cys
XM_017017737.2:c.1993C>T XP_016873226.1:p.Arg665Cys
XR_001747875.2:n.2416C>T
XR_949928.3:n.2416C>T
NM_001130144.3:c.1966C>T MANE Select NP_001123616.1:p.Arg656Cys