Canonical Allele Identifier: CA381275817

Gene: LTBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65553798G>A , CM000673.2:g.65553798G>A	GRCh38
NC_000011.9:g.65321269G>A , CM000673.1:g.65321269G>A	GRCh37
NC_000011.8:g.65077845G>A	NCBI36
NG_016437.1:g.9431C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001130144.3:c.767C>T MANE Select	NP_001123616.1:p.Ser256Phe
ENST00000301873.11:c.767C>T MANE Select	ENSP00000301873.5:p.Ser256Phe
NM_001130144.2:c.767C>T	NP_001123616.1:p.Ser256Phe
NM_001164266.1:c.416C>T	NP_001157738.1:p.Ser139Phe
NM_021070.4:c.767C>T	NP_066548.2:p.Ser256Phe
ENST00000301873.9:c.767C>T	ENSP00000301873.5:p.Ser256Phe
ENST00000322147.8:c.767C>T	ENSP00000326647.4:p.Ser256Phe
ENST00000524798.1:n.343C>T
ENST00000526825.5:c.238C>T
ENST00000526825.6:c.*30C>T	ENSP00000435146.2:n.*30C>T
ENST00000526927.5:c.138-1392C>T
ENST00000526927.6:c.332-1392C>T	ENSP00000431219.2:n.332-1392C>T
ENST00000528516.5:c.*412C>T	ENSP00000432350.1:n.*412C>T
ENST00000530866.5:c.500C>T	ENSP00000435276.1:p.Ser167Phe
ENST00000530866.6:c.500C>T	ENSP00000435276.2:p.Ser167Phe
ENST00000536982.5:c.-2225C>T	ENSP00000441912.2:n.-2225C>T
ENST00000689505.1:c.767C>T	ENSP00000510401.1:p.Ser256Phe
XM_011545032.1:c.794C>T	XP_011543334.1:p.Ser265Phe
XM_011545032.2:c.794C>T	XP_011543334.1:p.Ser265Phe
XM_011545033.1:c.794C>T	XP_011543335.1:p.Ser265Phe
XM_011545033.3:c.794C>T	XP_011543335.1:p.Ser265Phe
XM_017017737.2:c.794C>T	XP_016873226.1:p.Ser265Phe
XR_001747875.2:n.1217C>T
XR_949928.1:n.1194C>T
XR_949928.3:n.1217C>T