Canonical Allele Identifier: CA9448658

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40613184G>C , CM000681.2:g.40613184G>C	GRCh38
NC_000019.9:g.41119090G>C , CM000681.1:g.41119090G>C	GRCh37
NC_000019.8:g.45810930G>C	NCBI36
NG_021201.1:g.25019G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.2419G>C MANE Select	NP_001036010.1:p.Gly807Arg
ENST00000396819.8:c.2419G>C MANE Select	ENSP00000380031.5:p.Gly807Arg
NM_001042544.1:c.2620G>C	NP_001036009.1:p.Gly874Arg
NM_001042545.1:c.2419G>C	NP_001036010.1:p.Gly807Arg
NM_003573.2:c.2509G>C	NP_003564.2:p.Gly837Arg
ENST00000204005.13:c.2509G>C	ENSP00000204005.10:p.Gly837Arg
ENST00000243562.13:c.618G>C
ENST00000308370.11:c.2620G>C	ENSP00000311905.8:p.Gly874Arg
ENST00000396819.7:c.2419G>C	ENSP00000380031.4:p.Gly807Arg
ENST00000546155.5:n.848G>C
ENST00000598055.1:n.513G>C
ENST00000601032.5:c.314G>C
ENST00000612121.4:c.50G>C
XM_011527376.1:c.2734G>C	XP_011525678.1:p.Gly912Arg
XM_011527376.2:c.2734G>C	XP_011525678.1:p.Gly912Arg
XM_011527377.1:c.2653G>C	XP_011525679.1:p.Gly885Arg
XM_011527377.2:c.2653G>C	XP_011525679.1:p.Gly885Arg
XM_011527378.1:c.2653G>C	XP_011525680.1:p.Gly885Arg
XM_011527378.2:c.2653G>C	XP_011525680.1:p.Gly885Arg
XM_011527379.1:c.2533G>C	XP_011525681.1:p.Gly845Arg
XM_011527380.1:c.2527G>C	XP_011525682.1:p.Gly843Arg
XM_011527380.2:c.2527G>C	XP_011525682.1:p.Gly843Arg
XM_011527381.1:c.2653G>C	XP_011525683.1:p.Gly885Arg
XM_011527381.2:c.2653G>C	XP_011525683.1:p.Gly885Arg
XM_011527382.1:c.2410G>C	XP_011525684.1:p.Gly804Arg
XM_011527382.2:c.2410G>C	XP_011525684.1:p.Gly804Arg
XM_011527383.1:c.2653G>C	XP_011525685.1:p.Gly885Arg
XM_011527383.2:c.2653G>C	XP_011525685.1:p.Gly885Arg
XM_011527384.1:c.2653G>C	XP_011525686.1:p.Gly885Arg
XM_011527384.2:c.2653G>C	XP_011525686.1:p.Gly885Arg
XM_011527385.1:c.2653G>C	XP_011525687.1:p.Gly885Arg
XM_011527385.2:c.2653G>C	XP_011525687.1:p.Gly885Arg
XM_011527386.1:c.2653G>C	XP_011525688.1:p.Gly885Arg
XM_011527386.2:c.2653G>C	XP_011525688.1:p.Gly885Arg
XM_011527387.1:c.2011G>C	XP_011525689.1:p.Gly671Arg
XM_017027352.1:c.2653G>C	XP_016882841.1:p.Gly885Arg
XM_017027353.1:c.2653G>C	XP_016882842.1:p.Gly885Arg
XM_017027354.1:c.2527G>C	XP_016882843.1:p.Gly843Arg