Canonical Allele Identifier: CA9448593

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40612128G>A , CM000681.2:g.40612128G>A	GRCh38
NC_000019.9:g.41118034G>A , CM000681.1:g.41118034G>A	GRCh37
NC_000019.8:g.45809874G>A	NCBI36
NG_021201.1:g.23963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.2235G>A MANE Select	NP_001036010.1:p.Ser745=
ENST00000396819.8:c.2235G>A MANE Select	ENSP00000380031.5:p.Ser745=
NM_001042544.1:c.2436G>A	NP_001036009.1:p.Ser812=
NM_001042545.1:c.2235G>A	NP_001036010.1:p.Ser745=
NM_003573.2:c.2325G>A	NP_003564.2:p.Ser775=
ENST00000204005.13:c.2325G>A	ENSP00000204005.10:p.Ser775=
ENST00000243562.13:c.434G>A
ENST00000308370.11:c.2436G>A	ENSP00000311905.8:p.Ser812=
ENST00000396819.7:c.2235G>A	ENSP00000380031.4:p.Ser745=
ENST00000546155.5:n.664G>A
ENST00000598055.1:n.329G>A
ENST00000598717.5:n.631G>A
ENST00000601032.5:c.130G>A
XM_011527376.1:c.2550G>A	XP_011525678.1:p.Ser850=
XM_011527376.2:c.2550G>A	XP_011525678.1:p.Ser850=
XM_011527377.1:c.2469G>A	XP_011525679.1:p.Ser823=
XM_011527377.2:c.2469G>A	XP_011525679.1:p.Ser823=
XM_011527378.1:c.2469G>A	XP_011525680.1:p.Ser823=
XM_011527378.2:c.2469G>A	XP_011525680.1:p.Ser823=
XM_011527379.1:c.2349G>A	XP_011525681.1:p.Ser783=
XM_011527380.1:c.2343G>A	XP_011525682.1:p.Ser781=
XM_011527380.2:c.2343G>A	XP_011525682.1:p.Ser781=
XM_011527381.1:c.2469G>A	XP_011525683.1:p.Ser823=
XM_011527381.2:c.2469G>A	XP_011525683.1:p.Ser823=
XM_011527382.1:c.2226G>A	XP_011525684.1:p.Ser742=
XM_011527382.2:c.2226G>A	XP_011525684.1:p.Ser742=
XM_011527383.1:c.2469G>A	XP_011525685.1:p.Ser823=
XM_011527383.2:c.2469G>A	XP_011525685.1:p.Ser823=
XM_011527384.1:c.2469G>A	XP_011525686.1:p.Ser823=
XM_011527384.2:c.2469G>A	XP_011525686.1:p.Ser823=
XM_011527385.1:c.2469G>A	XP_011525687.1:p.Ser823=
XM_011527385.2:c.2469G>A	XP_011525687.1:p.Ser823=
XM_011527386.1:c.2469G>A	XP_011525688.1:p.Ser823=
XM_011527386.2:c.2469G>A	XP_011525688.1:p.Ser823=
XM_011527387.1:c.1827G>A	XP_011525689.1:p.Ser609=
XM_017027352.1:c.2469G>A	XP_016882841.1:p.Ser823=
XM_017027353.1:c.2469G>A	XP_016882842.1:p.Ser823=
XM_017027354.1:c.2343G>A	XP_016882843.1:p.Ser781=