Canonical Allele Identifier: CA405910524

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40627028C>T , CM000681.2:g.40627028C>T	GRCh38
NC_000019.9:g.41132933C>T , CM000681.1:g.41132933C>T	GRCh37
NC_000019.8:g.45824773C>T	NCBI36
NG_021201.1:g.38863C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.4039C>T MANE Select	NP_001036010.1:p.Arg1347Ter
ENST00000396819.8:c.4039C>T MANE Select	ENSP00000380031.5:p.Arg1347Ter
NM_001042544.1:c.4240C>T	NP_001036009.1:p.Arg1414Ter
NM_001042545.1:c.4039C>T	NP_001036010.1:p.Arg1347Ter
NM_003573.2:c.4129C>T	NP_003564.2:p.Arg1377Ter
ENST00000204005.13:c.4129C>T	ENSP00000204005.10:p.Arg1377Ter
ENST00000243562.13:c.2238C>T
ENST00000308370.11:c.4240C>T	ENSP00000311905.8:p.Arg1414Ter
ENST00000318809.11:n.966C>T
ENST00000396819.7:c.4039C>T	ENSP00000380031.4:p.Arg1347Ter
ENST00000595118.5:n.1544C>T
ENST00000601032.5:c.1676C>T
XM_011527376.1:c.4354C>T	XP_011525678.1:p.Arg1452Ter
XM_011527376.2:c.4354C>T	XP_011525678.1:p.Arg1452Ter
XM_011527377.1:c.4273C>T	XP_011525679.1:p.Arg1425Ter
XM_011527377.2:c.4273C>T	XP_011525679.1:p.Arg1425Ter
XM_011527378.1:c.4201C>T	XP_011525680.1:p.Arg1401Ter
XM_011527378.2:c.4201C>T	XP_011525680.1:p.Arg1401Ter
XM_011527379.1:c.4153C>T	XP_011525681.1:p.Arg1385Ter
XM_011527380.1:c.4147C>T	XP_011525682.1:p.Arg1383Ter
XM_011527380.2:c.4147C>T	XP_011525682.1:p.Arg1383Ter
XM_011527381.1:c.4147C>T	XP_011525683.1:p.Arg1383Ter
XM_011527381.2:c.4147C>T	XP_011525683.1:p.Arg1383Ter
XM_011527382.1:c.4030C>T	XP_011525684.1:p.Arg1344Ter
XM_011527382.2:c.4030C>T	XP_011525684.1:p.Arg1344Ter
XM_011527383.1:c.3934C>T	XP_011525685.1:p.Arg1312Ter
XM_011527383.2:c.3934C>T	XP_011525685.1:p.Arg1312Ter
XM_011527384.1:c.3808C>T	XP_011525686.1:p.Arg1270Ter
XM_011527384.2:c.3808C>T	XP_011525686.1:p.Arg1270Ter
XM_011527385.1:c.3802C>T	XP_011525687.1:p.Arg1268Ter
XM_011527385.2:c.3802C>T	XP_011525687.1:p.Arg1268Ter
XM_011527386.1:c.3676C>T	XP_011525688.1:p.Arg1226Ter
XM_011527386.2:c.3676C>T	XP_011525688.1:p.Arg1226Ter
XM_011527387.1:c.3631C>T	XP_011525689.1:p.Arg1211Ter
XM_017027352.1:c.4141C>T	XP_016882841.1:p.Arg1381Ter
XM_017027353.1:c.4015C>T	XP_016882842.1:p.Arg1339Ter
XM_017027354.1:c.3682C>T	XP_016882843.1:p.Arg1228Ter