Canonical Allele Identifier: CA405906802
Gene: LTBP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40622602G>C , CM000681.2:g.40622602G>C GRCh38
NC_000019.9:g.41128507G>C , CM000681.1:g.41128507G>C GRCh37
NC_000019.8:g.45820347G>C NCBI36
NG_021201.1:g.34437G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396819.8:c.3419G>C MANE Select ENSP00000380031.5:p.Cys1140Ser
ENST00000204005.13:c.3509G>C ENSP00000204005.10:p.Cys1170Ser
ENST00000243562.13:c.1618G>C
ENST00000308370.11:c.3620G>C ENSP00000311905.8:p.Cys1207Ser
ENST00000318809.11:n.484-1002G>C
ENST00000396819.7:c.3419G>C ENSP00000380031.4:p.Cys1140Ser
ENST00000593463.5:c.535-1002G>C
ENST00000594116.1:n.215G>C
ENST00000595118.5:n.924G>C
ENST00000595665.1:n.535-1002G>C
ENST00000597816.5:n.453-1002G>C
ENST00000599724.5:c.485-1002G>C ENSP00000469785.1:n.485-1002G>C
ENST00000601032.5:c.1056G>C
ENST00000622107.4:n.545-1002G>C
ENST00000622457.1:c.385-1002G>C
ENST00000622565.4:n.727-1002G>C
NM_001042544.1:c.3620G>C NP_001036009.1:p.Cys1207Ser
NM_001042545.1:c.3419G>C NP_001036010.1:p.Cys1140Ser
NM_003573.2:c.3509G>C NP_003564.2:p.Cys1170Ser
XM_011527376.1:c.3734G>C XP_011525678.1:p.Cys1245Ser
XM_011527377.1:c.3653G>C XP_011525679.1:p.Cys1218Ser
XM_011527378.1:c.3653G>C XP_011525680.1:p.Cys1218Ser
XM_011527379.1:c.3533G>C XP_011525681.1:p.Cys1178Ser
XM_011527380.1:c.3527G>C XP_011525682.1:p.Cys1176Ser
XM_011527381.1:c.3527G>C XP_011525683.1:p.Cys1176Ser
XM_011527382.1:c.3410G>C XP_011525684.1:p.Cys1137Ser
XM_011527383.1:c.3452-1002G>C XP_011525685.1:n.3452-1002G>C
XM_011527384.1:c.3326-1002G>C XP_011525686.1:n.3326-1002G>C
XM_011527385.1:c.3320-1002G>C XP_011525687.1:n.3320-1002G>C
XM_011527386.1:c.3194-1002G>C XP_011525688.1:n.3194-1002G>C
XM_011527387.1:c.3011G>C XP_011525689.1:p.Cys1004Ser
XM_011527376.2:c.3734G>C XP_011525678.1:p.Cys1245Ser
XM_011527377.2:c.3653G>C XP_011525679.1:p.Cys1218Ser
XM_011527378.2:c.3653G>C XP_011525680.1:p.Cys1218Ser
XM_011527380.2:c.3527G>C XP_011525682.1:p.Cys1176Ser
XM_011527381.2:c.3527G>C XP_011525683.1:p.Cys1176Ser
XM_011527382.2:c.3410G>C XP_011525684.1:p.Cys1137Ser
XM_011527383.2:c.3452-1002G>C XP_011525685.1:n.3452-1002G>C
XM_011527384.2:c.3326-1002G>C XP_011525686.1:n.3326-1002G>C
XM_011527385.2:c.3320-1002G>C XP_011525687.1:n.3320-1002G>C
XM_011527386.2:c.3194-1002G>C XP_011525688.1:n.3194-1002G>C
XM_017027352.1:c.3521G>C XP_016882841.1:p.Cys1174Ser
XM_017027353.1:c.3395G>C XP_016882842.1:p.Cys1132Ser
XM_017027354.1:c.3200-1002G>C XP_016882843.1:n.3200-1002G>C
NM_001042545.2:c.3419G>C MANE Select NP_001036010.1:p.Cys1140Ser