Canonical Allele Identifier: CA475179830

Gene: LTBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65539443C>T , CM000673.2:g.65539443C>T	GRCh38
NC_000011.9:g.65306914C>T , CM000673.1:g.65306914C>T	GRCh37
NC_000011.8:g.65063490C>T	NCBI36
NG_016437.1:g.23786G>A
NG_047172.1:g.19379C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001130144.3:c.3645G>A MANE Select	NP_001123616.1:p.Glu1215=
ENST00000301873.11:c.3645G>A MANE Select	ENSP00000301873.5:p.Glu1215=
NM_001130144.2:c.3645G>A	NP_001123616.1:p.Glu1215=
NM_001164266.1:c.3153G>A	NP_001157738.1:p.Glu1051=
NM_021070.4:c.3504G>A	NP_066548.2:p.Glu1168=
ENST00000301873.9:c.3645G>A	ENSP00000301873.5:p.Glu1215=
ENST00000322147.8:c.3504G>A	ENSP00000326647.4:p.Glu1168=
ENST00000526825.6:c.*2908G>A	ENSP00000435146.2:n.*2908G>A
ENST00000526927.5:c.2455G>A
ENST00000526927.6:c.2649G>A	ENSP00000431219.2:p.Glu883=
ENST00000528516.5:c.*3149G>A	ENSP00000432350.1:n.*3149G>A
ENST00000529189.5:c.513G>A	ENSP00000434406.1:p.Glu171=
ENST00000529371.5:c.264G>A	ENSP00000436032.1:p.Glu88=
ENST00000529582.5:n.1359G>A
ENST00000529582.6:n.1687G>A
ENST00000530785.5:c.654G>A	ENSP00000434315.1:p.Glu218=
ENST00000530866.5:c.3378G>A	ENSP00000435276.1:p.Glu1126=
ENST00000530866.6:c.3378G>A	ENSP00000435276.2:p.Glu1126=
ENST00000532661.5:c.513G>A	ENSP00000436341.1:p.Glu171=
ENST00000532661.6:c.513G>A	ENSP00000436341.2:p.Glu171=
ENST00000532932.5:c.1935G>A	ENSP00000435530.1:p.Glu645=
ENST00000536982.5:c.654G>A	ENSP00000441912.2:p.Glu218=
ENST00000685178.1:n.3176G>A
ENST00000688764.1:n.2005G>A
ENST00000689505.1:c.3522G>A	ENSP00000510401.1:p.Glu1174=
XM_011545032.1:c.3672G>A	XP_011543334.1:p.Glu1224=
XM_011545032.2:c.3672G>A	XP_011543334.1:p.Glu1224=
XM_011545033.1:c.3531G>A	XP_011543335.1:p.Glu1177=
XM_011545033.3:c.3531G>A	XP_011543335.1:p.Glu1177=
XR_001747875.2:n.4112G>A
XR_949928.3:n.3971G>A