Canonical Allele Identifier: CA6100519

Gene: LTBP3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65541593C>T , CM000673.2:g.65541593C>T	GRCh38
NC_000011.9:g.65309064C>T , CM000673.1:g.65309064C>T	GRCh37
NC_000011.8:g.65065640C>T	NCBI36
NG_016437.1:g.21636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.*1988+7G>A	ENSP00000435146.2:n.*1988+7G>A
ENST00000526927.6:c.1870+7G>A	ENSP00000431219.2:n.1870+7G>A
ENST00000529582.6:n.767+7G>A
ENST00000530866.6:c.2458+7G>A	ENSP00000435276.2:n.2458+7G>A
ENST00000685178.1:n.2397+7G>A
ENST00000688764.1:n.1226+7G>A
ENST00000689505.1:c.2602+7G>A	ENSP00000510401.1:n.2602+7G>A
ENST00000301873.11:c.2725+7G>A MANE Select	ENSP00000301873.5:n.2725+7G>A
ENST00000301873.9:c.2725+7G>A	ENSP00000301873.5:n.2725+7G>A
ENST00000322147.8:c.2725+7G>A	ENSP00000326647.4:n.2725+7G>A
ENST00000526124.1:n.21+7G>A
ENST00000526927.5:c.1676+7G>A
ENST00000528516.5:c.*2370+7G>A	ENSP00000432350.1:n.*2370+7G>A
ENST00000529189.5:c.-267+7G>A	ENSP00000434406.1:n.-267+7G>A
ENST00000529582.5:n.439+7G>A
ENST00000530785.5:c.-267+7G>A	ENSP00000434315.1:n.-267+7G>A
ENST00000530866.5:c.2458+7G>A	ENSP00000435276.1:n.2458+7G>A
ENST00000530990.1:n.232+7G>A
ENST00000532932.5:c.1015+7G>A	ENSP00000435530.1:n.1015+7G>A
ENST00000536982.5:c.-267+7G>A	ENSP00000441912.2:n.-267+7G>A
NM_001130144.2:c.2725+7G>A	NP_001123616.1:n.2725+7G>A
NM_001164266.1:c.2374+7G>A	NP_001157738.1:n.2374+7G>A
NM_021070.4:c.2725+7G>A	NP_066548.2:n.2725+7G>A
XM_011545032.1:c.2752+7G>A	XP_011543334.1:n.2752+7G>A
XM_011545033.1:c.2752+7G>A	XP_011543335.1:n.2752+7G>A
XR_949928.1:n.3152+7G>A
XM_011545032.2:c.2752+7G>A	XP_011543334.1:n.2752+7G>A
XM_011545033.3:c.2752+7G>A	XP_011543335.1:n.2752+7G>A
XR_001747875.2:n.3175+7G>A
XR_949928.3:n.3175+7G>A
NM_001130144.3:c.2725+7G>A MANE Select	NP_001123616.1:n.2725+7G>A