Canonical Allele Identifier: CA9448333

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40609594G>T , CM000681.2:g.40609594G>T	GRCh38
NC_000019.9:g.41115500G>T , CM000681.1:g.41115500G>T	GRCh37
NC_000019.8:g.45807340G>T	NCBI36
NG_021201.1:g.21429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.1491G>T MANE Select	ENSP00000380031.5:p.Arg497=
ENST00000204005.13:c.1581G>T	ENSP00000204005.10:p.Arg527=
ENST00000308370.11:c.1692G>T	ENSP00000311905.8:p.Arg564=
ENST00000396819.7:c.1491G>T	ENSP00000380031.4:p.Arg497=
ENST00000598717.5:n.429-1780G>T
NM_001042544.1:c.1692G>T	NP_001036009.1:p.Arg564=
NM_001042545.1:c.1491G>T	NP_001036010.1:p.Arg497=
NM_003573.2:c.1581G>T	NP_003564.2:p.Arg527=
XM_011527376.1:c.1806G>T	XP_011525678.1:p.Arg602=
XM_011527377.1:c.1725G>T	XP_011525679.1:p.Arg575=
XM_011527378.1:c.1725G>T	XP_011525680.1:p.Arg575=
XM_011527379.1:c.1605G>T	XP_011525681.1:p.Arg535=
XM_011527380.1:c.1725G>T	XP_011525682.1:p.Arg575=
XM_011527381.1:c.1725G>T	XP_011525683.1:p.Arg575=
XM_011527382.1:c.1725G>T	XP_011525684.1:p.Arg575=
XM_011527383.1:c.1725G>T	XP_011525685.1:p.Arg575=
XM_011527384.1:c.1725G>T	XP_011525686.1:p.Arg575=
XM_011527385.1:c.1725G>T	XP_011525687.1:p.Arg575=
XM_011527386.1:c.1725G>T	XP_011525688.1:p.Arg575=
XM_011527387.1:c.1083G>T	XP_011525689.1:p.Arg361=
XM_011527376.2:c.1806G>T	XP_011525678.1:p.Arg602=
XM_011527377.2:c.1725G>T	XP_011525679.1:p.Arg575=
XM_011527378.2:c.1725G>T	XP_011525680.1:p.Arg575=
XM_011527380.2:c.1725G>T	XP_011525682.1:p.Arg575=
XM_011527381.2:c.1725G>T	XP_011525683.1:p.Arg575=
XM_011527382.2:c.1725G>T	XP_011525684.1:p.Arg575=
XM_011527383.2:c.1725G>T	XP_011525685.1:p.Arg575=
XM_011527384.2:c.1725G>T	XP_011525686.1:p.Arg575=
XM_011527385.2:c.1725G>T	XP_011525687.1:p.Arg575=
XM_011527386.2:c.1725G>T	XP_011525688.1:p.Arg575=
XM_017027352.1:c.1725G>T	XP_016882841.1:p.Arg575=
XM_017027353.1:c.1725G>T	XP_016882842.1:p.Arg575=
XM_017027354.1:c.1725G>T	XP_016882843.1:p.Arg575=
NM_001042545.2:c.1491G>T MANE Select	NP_001036010.1:p.Arg497=