Canonical Allele Identifier: CA6101066

Gene: LTBP3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65552956C>T , CM000673.2:g.65552956C>T	GRCh38
NC_000011.9:g.65320427C>T , CM000673.1:g.65320427C>T	GRCh37
NC_000011.8:g.65077003C>T	NCBI36
NG_016437.1:g.10273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.*353G>A	ENSP00000435146.2:n.*353G>A
ENST00000526927.6:c.332-550G>A	ENSP00000431219.2:n.332-550G>A
ENST00000530866.6:c.823G>A	ENSP00000435276.2:p.Val275Met
ENST00000689505.1:c.1063+208G>A	ENSP00000510401.1:n.1063+208G>A
ENST00000301873.11:c.1090G>A MANE Select	ENSP00000301873.5:p.Val364Met
ENST00000301873.9:c.1090G>A	ENSP00000301873.5:p.Val364Met
ENST00000322147.8:c.1090G>A	ENSP00000326647.4:p.Val364Met
ENST00000524798.1:n.560G>A
ENST00000526825.5:c.561G>A
ENST00000526927.5:c.138-550G>A
ENST00000527792.5:n.22G>A
ENST00000528516.5:c.*735G>A	ENSP00000432350.1:n.*735G>A
ENST00000530426.1:c.226+208G>A	ENSP00000432476.1:n.226+208G>A
ENST00000530866.5:c.823G>A	ENSP00000435276.1:p.Val275Met
ENST00000536982.5:c.-1902G>A	ENSP00000441912.2:n.-1902G>A
NM_001130144.2:c.1090G>A	NP_001123616.1:p.Val364Met
NM_001164266.1:c.739G>A	NP_001157738.1:p.Val247Met
NM_021070.4:c.1090G>A	NP_066548.2:p.Val364Met
XM_011545032.1:c.1117G>A	XP_011543334.1:p.Val373Met
XM_011545033.1:c.1117G>A	XP_011543335.1:p.Val373Met
XR_949928.1:n.1517G>A
XM_011545032.2:c.1117G>A	XP_011543334.1:p.Val373Met
XM_011545033.3:c.1117G>A	XP_011543335.1:p.Val373Met
XM_017017737.2:c.1117G>A	XP_016873226.1:p.Val373Met
XR_001747875.2:n.1540G>A
XR_949928.3:n.1540G>A
NM_001130144.3:c.1090G>A MANE Select	NP_001123616.1:p.Val364Met