Canonical Allele Identifier: CA475175102

Gene: LTBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65547939G>A , CM000673.2:g.65547939G>A	GRCh38
NC_000011.9:g.65315410G>A , CM000673.1:g.65315410G>A	GRCh37
NC_000011.8:g.65071986G>A	NCBI36
NG_016437.1:g.15290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001130144.3:c.1827C>T MANE Select	NP_001123616.1:p.Pro609=
ENST00000301873.11:c.1827C>T MANE Select	ENSP00000301873.5:p.Pro609=
NM_001130144.2:c.1827C>T	NP_001123616.1:p.Pro609=
NM_001164266.1:c.1476C>T	NP_001157738.1:p.Pro492=
NM_021070.4:c.1827C>T	NP_066548.2:p.Pro609=
ENST00000301873.9:c.1827C>T	ENSP00000301873.5:p.Pro609=
ENST00000322147.8:c.1827C>T	ENSP00000326647.4:p.Pro609=
ENST00000526825.6:c.*1090C>T	ENSP00000435146.2:n.*1090C>T
ENST00000526927.5:c.778C>T
ENST00000526927.6:c.972C>T	ENSP00000431219.2:p.Pro324=
ENST00000528516.5:c.*1472C>T	ENSP00000432350.1:n.*1472C>T
ENST00000530866.5:c.1560C>T	ENSP00000435276.1:p.Pro520=
ENST00000530866.6:c.1560C>T	ENSP00000435276.2:p.Pro520=
ENST00000532932.5:c.117C>T	ENSP00000435530.1:p.Pro39=
ENST00000536982.5:c.-1165C>T	ENSP00000441912.2:n.-1165C>T
ENST00000685178.1:n.1499C>T
ENST00000688764.1:n.350C>T
ENST00000689505.1:c.1704C>T	ENSP00000510401.1:p.Pro568=
XM_011545032.1:c.1854C>T	XP_011543334.1:p.Pro618=
XM_011545032.2:c.1854C>T	XP_011543334.1:p.Pro618=
XM_011545033.1:c.1854C>T	XP_011543335.1:p.Pro618=
XM_011545033.3:c.1854C>T	XP_011543335.1:p.Pro618=
XM_017017737.2:c.1854C>T	XP_016873226.1:p.Pro618=
XR_001747875.2:n.2277C>T
XR_949928.1:n.2254C>T
XR_949928.3:n.2277C>T