Canonical Allele Identifier: CA2614344926
Gene: LTBP3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65546926C>T , CM000673.2:g.65546926C>T GRCh38
NC_000011.9:g.65314397C>T , CM000673.1:g.65314397C>T GRCh37
NC_000011.8:g.65070973C>T NCBI36
NG_016437.1:g.16303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526825.6:c.*1371-6G>A ENSP00000435146.2:n.*1371-6G>A
ENST00000526927.6:c.1253-6G>A ENSP00000431219.2:n.1253-6G>A
ENST00000530866.6:c.1841-6G>A ENSP00000435276.2:n.1841-6G>A
ENST00000685178.1:n.1780-6G>A
ENST00000688764.1:n.631-6G>A
ENST00000689505.1:c.1985-6G>A ENSP00000510401.1:n.1985-6G>A
ENST00000301873.11:c.2108-6G>A MANE Select ENSP00000301873.5:n.2108-6G>A
ENST00000301873.9:c.2108-6G>A ENSP00000301873.5:n.2108-6G>A
ENST00000322147.8:c.2108-6G>A ENSP00000326647.4:n.2108-6G>A
ENST00000526927.5:c.1059-6G>A
ENST00000527339.1:c.128-6G>A ENSP00000432121.1:n.128-6G>A
ENST00000528516.5:c.*1753-6G>A ENSP00000432350.1:n.*1753-6G>A
ENST00000530866.5:c.1841-6G>A ENSP00000435276.1:n.1841-6G>A
ENST00000532932.5:c.398-6G>A ENSP00000435530.1:n.398-6G>A
ENST00000536982.5:c.-884-6G>A ENSP00000441912.2:n.-884-6G>A
NM_001130144.2:c.2108-6G>A NP_001123616.1:n.2108-6G>A
NM_001164266.1:c.1757-6G>A NP_001157738.1:n.1757-6G>A
NM_021070.4:c.2108-6G>A NP_066548.2:n.2108-6G>A
XM_011545032.1:c.2135-6G>A XP_011543334.1:n.2135-6G>A
XM_011545033.1:c.2135-6G>A XP_011543335.1:n.2135-6G>A
XR_949928.1:n.2535-6G>A
XM_011545032.2:c.2135-6G>A XP_011543334.1:n.2135-6G>A
XM_011545033.3:c.2135-6G>A XP_011543335.1:n.2135-6G>A
XM_017017737.2:c.2135-6G>A XP_016873226.1:n.2135-6G>A
XR_001747875.2:n.2558-6G>A
XR_949928.3:n.2558-6G>A
NM_001130144.3:c.2108-6G>A MANE Select NP_001123616.1:n.2108-6G>A