Canonical Allele Identifier: CA381271347

Gene: LTBP3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65547732C>G , CM000673.2:g.65547732C>G	GRCh38
NC_000011.9:g.65315203C>G , CM000673.1:g.65315203C>G	GRCh37
NC_000011.8:g.65071779C>G	NCBI36
NG_016437.1:g.15497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.*1199G>C	ENSP00000435146.2:n.*1199G>C
ENST00000526927.6:c.1081G>C	ENSP00000431219.2:p.Gly361Arg
ENST00000530866.6:c.1669G>C	ENSP00000435276.2:p.Gly557Arg
ENST00000685178.1:n.1608G>C
ENST00000688764.1:n.459G>C
ENST00000689505.1:c.1813G>C	ENSP00000510401.1:p.Gly605Arg
ENST00000301873.11:c.1936G>C MANE Select	ENSP00000301873.5:p.Gly646Arg
ENST00000301873.9:c.1936G>C	ENSP00000301873.5:p.Gly646Arg
ENST00000322147.8:c.1936G>C	ENSP00000326647.4:p.Gly646Arg
ENST00000526927.5:c.887G>C
ENST00000528516.5:c.*1581G>C	ENSP00000432350.1:n.*1581G>C
ENST00000530866.5:c.1669G>C	ENSP00000435276.1:p.Gly557Arg
ENST00000532932.5:c.226G>C	ENSP00000435530.1:p.Gly76Arg
ENST00000536982.5:c.-1056G>C	ENSP00000441912.2:n.-1056G>C
NM_001130144.2:c.1936G>C	NP_001123616.1:p.Gly646Arg
NM_001164266.1:c.1585G>C	NP_001157738.1:p.Gly529Arg
NM_021070.4:c.1936G>C	NP_066548.2:p.Gly646Arg
XM_011545032.1:c.1963G>C	XP_011543334.1:p.Gly655Arg
XM_011545033.1:c.1963G>C	XP_011543335.1:p.Gly655Arg
XR_949928.1:n.2363G>C
XM_011545032.2:c.1963G>C	XP_011543334.1:p.Gly655Arg
XM_011545033.3:c.1963G>C	XP_011543335.1:p.Gly655Arg
XM_017017737.2:c.1963G>C	XP_016873226.1:p.Gly655Arg
XR_001747875.2:n.2386G>C
XR_949928.3:n.2386G>C
NM_001130144.3:c.1936G>C MANE Select	NP_001123616.1:p.Gly646Arg