Canonical Allele Identifier: CA405912429

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40627749G>C , CM000681.2:g.40627749G>C	GRCh38
NC_000019.9:g.41133654G>C , CM000681.1:g.41133654G>C	GRCh37
NC_000019.8:g.45825494G>C	NCBI36
NG_021201.1:g.39584G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.4411G>C MANE Select	NP_001036010.1:p.Gly1471Arg
ENST00000396819.8:c.4411G>C MANE Select	ENSP00000380031.5:p.Gly1471Arg
NM_001042544.1:c.4612G>C	NP_001036009.1:p.Gly1538Arg
NM_001042545.1:c.4411G>C	NP_001036010.1:p.Gly1471Arg
NM_003573.2:c.4501G>C	NP_003564.2:p.Gly1501Arg
ENST00000204005.13:c.4501G>C	ENSP00000204005.10:p.Gly1501Arg
ENST00000243562.13:c.2610G>C
ENST00000308370.11:c.4612G>C	ENSP00000311905.8:p.Gly1538Arg
ENST00000318809.11:n.1338G>C
ENST00000396819.7:c.4411G>C	ENSP00000380031.4:p.Gly1471Arg
ENST00000595118.5:n.1916G>C
ENST00000598166.2:c.142G>C	ENSP00000481081.1:p.Gly48Arg
ENST00000599225.1:c.69G>C
XM_011527376.1:c.4726G>C	XP_011525678.1:p.Gly1576Arg
XM_011527376.2:c.4726G>C	XP_011525678.1:p.Gly1576Arg
XM_011527377.1:c.4645G>C	XP_011525679.1:p.Gly1549Arg
XM_011527377.2:c.4645G>C	XP_011525679.1:p.Gly1549Arg
XM_011527378.1:c.4573G>C	XP_011525680.1:p.Gly1525Arg
XM_011527378.2:c.4573G>C	XP_011525680.1:p.Gly1525Arg
XM_011527379.1:c.4525G>C	XP_011525681.1:p.Gly1509Arg
XM_011527380.1:c.4519G>C	XP_011525682.1:p.Gly1507Arg
XM_011527380.2:c.4519G>C	XP_011525682.1:p.Gly1507Arg
XM_011527381.1:c.4519G>C	XP_011525683.1:p.Gly1507Arg
XM_011527381.2:c.4519G>C	XP_011525683.1:p.Gly1507Arg
XM_011527382.1:c.4402G>C	XP_011525684.1:p.Gly1468Arg
XM_011527382.2:c.4402G>C	XP_011525684.1:p.Gly1468Arg
XM_011527383.1:c.4306G>C	XP_011525685.1:p.Gly1436Arg
XM_011527383.2:c.4306G>C	XP_011525685.1:p.Gly1436Arg
XM_011527384.1:c.4180G>C	XP_011525686.1:p.Gly1394Arg
XM_011527384.2:c.4180G>C	XP_011525686.1:p.Gly1394Arg
XM_011527385.1:c.4174G>C	XP_011525687.1:p.Gly1392Arg
XM_011527385.2:c.4174G>C	XP_011525687.1:p.Gly1392Arg
XM_011527386.1:c.4048G>C	XP_011525688.1:p.Gly1350Arg
XM_011527386.2:c.4048G>C	XP_011525688.1:p.Gly1350Arg
XM_011527387.1:c.4003G>C	XP_011525689.1:p.Gly1335Arg
XM_017027352.1:c.4513G>C	XP_016882841.1:p.Gly1505Arg
XM_017027353.1:c.4387G>C	XP_016882842.1:p.Gly1463Arg
XM_017027354.1:c.4054G>C	XP_016882843.1:p.Gly1352Arg