Canonical Allele Identifier: CA6101160
Community Standard Title: NM_001130144.3(LTBP3):c.792G>A (p.Lys264=)
Gene: LTBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65553773C>T , CM000673.2:g.65553773C>T GRCh38
NC_000011.9:g.65321244C>T , CM000673.1:g.65321244C>T GRCh37
NC_000011.8:g.65077820C>T NCBI36
NG_016437.1:g.9456G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001130144.3:c.792G>A MANE Select NP_001123616.1:p.Lys264=
ENST00000301873.11:c.792G>A MANE Select ENSP00000301873.5:p.Lys264=
NM_001130144.2:c.792G>A NP_001123616.1:p.Lys264=
NM_001164266.1:c.441G>A NP_001157738.1:p.Lys147=
NM_021070.4:c.792G>A NP_066548.2:p.Lys264=
ENST00000301873.9:c.792G>A ENSP00000301873.5:p.Lys264=
ENST00000322147.8:c.792G>A ENSP00000326647.4:p.Lys264=
ENST00000524798.1:n.368G>A
ENST00000526825.5:c.263G>A
ENST00000526825.6:c.*55G>A ENSP00000435146.2:n.*55G>A
ENST00000526927.5:c.138-1367G>A
ENST00000526927.6:c.332-1367G>A ENSP00000431219.2:n.332-1367G>A
ENST00000528516.5:c.*437G>A ENSP00000432350.1:n.*437G>A
ENST00000530866.5:c.525G>A ENSP00000435276.1:p.Lys175=
ENST00000530866.6:c.525G>A ENSP00000435276.2:p.Lys175=
ENST00000536982.5:c.-2200G>A ENSP00000441912.2:n.-2200G>A
ENST00000689505.1:c.792G>A ENSP00000510401.1:p.Lys264=
XM_011545032.1:c.819G>A XP_011543334.1:p.Lys273=
XM_011545032.2:c.819G>A XP_011543334.1:p.Lys273=
XM_011545033.1:c.819G>A XP_011543335.1:p.Lys273=
XM_011545033.3:c.819G>A XP_011543335.1:p.Lys273=
XM_017017737.2:c.819G>A XP_016873226.1:p.Lys273=
XR_001747875.2:n.1242G>A
XR_949928.1:n.1219G>A
XR_949928.3:n.1242G>A