Canonical Allele Identifier: CA308450066
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40608890G>A , CM000681.2:g.40608890G>A GRCh38
NC_000019.9:g.41114796G>A , CM000681.1:g.41114796G>A GRCh37
NC_000019.8:g.45806636G>A NCBI36
NG_021201.1:g.20725G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.1426+287G>A MANE Select NP_001036010.1:n.1426+287G>A
ENST00000396819.8:c.1426+287G>A MANE Select ENSP00000380031.5:n.1426+287G>A
NM_001042544.1:c.1627+287G>A NP_001036009.1:n.1627+287G>A
NM_001042545.1:c.1426+287G>A NP_001036010.1:n.1426+287G>A
NM_003573.2:c.1516+287G>A NP_003564.2:n.1516+287G>A
ENST00000204005.13:c.1516+287G>A ENSP00000204005.10:n.1516+287G>A
ENST00000308370.11:c.1627+287G>A ENSP00000311905.8:n.1627+287G>A
ENST00000396819.7:c.1426+287G>A ENSP00000380031.4:n.1426+287G>A
ENST00000595529.1:n.783G>A
ENST00000598717.5:n.429-2484G>A
XM_011527376.1:c.1741+287G>A XP_011525678.1:n.1741+287G>A
XM_011527376.2:c.1741+287G>A XP_011525678.1:n.1741+287G>A
XM_011527377.1:c.1660+287G>A XP_011525679.1:n.1660+287G>A
XM_011527377.2:c.1660+287G>A XP_011525679.1:n.1660+287G>A
XM_011527378.1:c.1660+287G>A XP_011525680.1:n.1660+287G>A
XM_011527378.2:c.1660+287G>A XP_011525680.1:n.1660+287G>A
XM_011527379.1:c.1540+287G>A XP_011525681.1:n.1540+287G>A
XM_011527380.1:c.1660+287G>A XP_011525682.1:n.1660+287G>A
XM_011527380.2:c.1660+287G>A XP_011525682.1:n.1660+287G>A
XM_011527381.1:c.1660+287G>A XP_011525683.1:n.1660+287G>A
XM_011527381.2:c.1660+287G>A XP_011525683.1:n.1660+287G>A
XM_011527382.1:c.1660+287G>A XP_011525684.1:n.1660+287G>A
XM_011527382.2:c.1660+287G>A XP_011525684.1:n.1660+287G>A
XM_011527383.1:c.1660+287G>A XP_011525685.1:n.1660+287G>A
XM_011527383.2:c.1660+287G>A XP_011525685.1:n.1660+287G>A
XM_011527384.1:c.1660+287G>A XP_011525686.1:n.1660+287G>A
XM_011527384.2:c.1660+287G>A XP_011525686.1:n.1660+287G>A
XM_011527385.1:c.1660+287G>A XP_011525687.1:n.1660+287G>A
XM_011527385.2:c.1660+287G>A XP_011525687.1:n.1660+287G>A
XM_011527386.1:c.1660+287G>A XP_011525688.1:n.1660+287G>A
XM_011527386.2:c.1660+287G>A XP_011525688.1:n.1660+287G>A
XM_011527387.1:c.1018+287G>A XP_011525689.1:n.1018+287G>A
XM_017027352.1:c.1660+287G>A XP_016882841.1:n.1660+287G>A
XM_017027353.1:c.1660+287G>A XP_016882842.1:n.1660+287G>A
XM_017027354.1:c.1660+287G>A XP_016882843.1:n.1660+287G>A