Canonical Allele Identifier: CA475180304

Gene: LTBP3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65540026G>T , CM000673.2:g.65540026G>T	GRCh38
NC_000011.9:g.65307497G>T , CM000673.1:g.65307497G>T	GRCh37
NC_000011.8:g.65064073G>T	NCBI36
NG_016437.1:g.23203C>A
NG_047172.1:g.19962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.*2635C>A	ENSP00000435146.2:n.*2635C>A
ENST00000526927.6:c.2390-145C>A	ENSP00000431219.2:n.2390-145C>A
ENST00000529582.6:n.1414C>A
ENST00000530866.6:c.3105C>A	ENSP00000435276.2:p.Pro1035=
ENST00000532661.6:c.254-145C>A	ENSP00000436341.2:n.254-145C>A
ENST00000685178.1:n.2917-145C>A
ENST00000688764.1:n.1746-145C>A
ENST00000689505.1:c.3249C>A	ENSP00000510401.1:p.Pro1083=
ENST00000301873.11:c.3372C>A MANE Select	ENSP00000301873.5:p.Pro1124=
ENST00000301873.9:c.3372C>A	ENSP00000301873.5:p.Pro1124=
ENST00000322147.8:c.3245-145C>A	ENSP00000326647.4:n.3245-145C>A
ENST00000526927.5:c.2196-145C>A
ENST00000528516.5:c.*2890-145C>A	ENSP00000432350.1:n.*2890-145C>A
ENST00000529189.5:c.254-145C>A	ENSP00000434406.1:n.254-145C>A
ENST00000529371.5:c.5-145C>A	ENSP00000436032.1:n.5-145C>A
ENST00000529582.5:n.1086C>A
ENST00000530785.5:c.381C>A	ENSP00000434315.1:p.Pro127=
ENST00000530866.5:c.3105C>A	ENSP00000435276.1:p.Pro1035=
ENST00000532661.5:c.254-145C>A	ENSP00000436341.1:n.254-145C>A
ENST00000532932.5:c.1662C>A	ENSP00000435530.1:p.Pro554=
ENST00000536982.5:c.381C>A	ENSP00000441912.2:p.Pro127=
NM_001130144.2:c.3372C>A	NP_001123616.1:p.Pro1124=
NM_001164266.1:c.2894-145C>A	NP_001157738.1:n.2894-145C>A
NM_021070.4:c.3245-145C>A	NP_066548.2:n.3245-145C>A
XM_011545032.1:c.3399C>A	XP_011543334.1:p.Pro1133=
XM_011545033.1:c.3272-145C>A	XP_011543335.1:n.3272-145C>A
XM_011545032.2:c.3399C>A	XP_011543334.1:p.Pro1133=
XM_011545033.3:c.3272-145C>A	XP_011543335.1:n.3272-145C>A
XR_001747875.2:n.3839C>A
XR_949928.3:n.3712-145C>A
NM_001130144.3:c.3372C>A MANE Select	NP_001123616.1:p.Pro1124=