Canonical Allele Identifier: CA2739270529
Gene: LTBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65540236G>C , CM000673.2:g.65540236G>C GRCh38
NC_000011.9:g.65307707G>C , CM000673.1:g.65307707G>C GRCh37
NC_000011.8:g.65064283G>C NCBI36
NG_016437.1:g.22993C>G
NG_047172.1:g.20172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526825.6:c.*2507+9C>G ENSP00000435146.2:n.*2507+9C>G
ENST00000526927.6:c.2389+9C>G ENSP00000431219.2:n.2389+9C>G
ENST00000529582.6:n.1286+9C>G
ENST00000530866.6:c.2977+9C>G ENSP00000435276.2:n.2977+9C>G
ENST00000532661.6:c.253+9C>G ENSP00000436341.2:n.253+9C>G
ENST00000685178.1:n.2916+9C>G
ENST00000688764.1:n.1745+9C>G
ENST00000689505.1:c.3121+9C>G ENSP00000510401.1:n.3121+9C>G
ENST00000301873.11:c.3244+9C>G MANE Select ENSP00000301873.5:n.3244+9C>G
ENST00000301873.9:c.3244+9C>G ENSP00000301873.5:n.3244+9C>G
ENST00000322147.8:c.3244+9C>G ENSP00000326647.4:n.3244+9C>G
ENST00000526927.5:c.2195+9C>G
ENST00000528516.5:c.*2889+9C>G ENSP00000432350.1:n.*2889+9C>G
ENST00000529189.5:c.253+9C>G ENSP00000434406.1:n.253+9C>G
ENST00000529371.5:c.4+9C>G ENSP00000436032.1:n.4+9C>G
ENST00000529582.5:n.958+9C>G
ENST00000530785.5:c.253+9C>G ENSP00000434315.1:n.253+9C>G
ENST00000530866.5:c.2977+9C>G ENSP00000435276.1:n.2977+9C>G
ENST00000532661.5:c.253+9C>G ENSP00000436341.1:n.253+9C>G
ENST00000532932.5:c.1534+9C>G ENSP00000435530.1:n.1534+9C>G
ENST00000536982.5:c.253+9C>G ENSP00000441912.2:n.253+9C>G
NM_001130144.2:c.3244+9C>G NP_001123616.1:n.3244+9C>G
NM_001164266.1:c.2893+9C>G NP_001157738.1:n.2893+9C>G
NM_021070.4:c.3244+9C>G NP_066548.2:n.3244+9C>G
XM_011545032.1:c.3271+9C>G XP_011543334.1:n.3271+9C>G
XM_011545033.1:c.3271+9C>G XP_011543335.1:n.3271+9C>G
XM_011545032.2:c.3271+9C>G XP_011543334.1:n.3271+9C>G
XM_011545033.3:c.3271+9C>G XP_011543335.1:n.3271+9C>G
XR_001747875.2:n.3711+9C>G
XR_949928.3:n.3711+9C>G
NM_001130144.3:c.3244+9C>G MANE Select NP_001123616.1:n.3244+9C>G