Canonical Allele Identifier: CA507685164

Gene: LTBP4

Linked Data

• dbSNP Id: rs1406545312
• gnomAD v2: 19-41128556-C-T
• gnomAD v4: 19-40622651-C-T
• MyVariant Identifiers: chr19:g.41128556C>T (hg19) ; chr19:g.40622651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622651C>T , CM000681.2:g.40622651C>T	GRCh38
NC_000019.9:g.41128556C>T , CM000681.1:g.41128556C>T	GRCh37
NC_000019.8:g.45820396C>T	NCBI36
NG_021201.1:g.34486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3468C>T MANE Select	ENSP00000380031.5:p.Cys1156=
ENST00000204005.13:c.3558C>T	ENSP00000204005.10:p.Cys1186=
ENST00000243562.13:c.1667C>T
ENST00000308370.11:c.3669C>T	ENSP00000311905.8:p.Cys1223=
ENST00000318809.11:n.484-953C>T
ENST00000396819.7:c.3468C>T	ENSP00000380031.4:p.Cys1156=
ENST00000593463.5:c.535-953C>T
ENST00000594116.1:n.264C>T
ENST00000595118.5:n.973C>T
ENST00000595665.1:n.535-953C>T
ENST00000597816.5:n.453-953C>T
ENST00000599724.5:c.485-953C>T	ENSP00000469785.1:n.485-953C>T
ENST00000601032.5:c.1105C>T
ENST00000622107.4:n.545-953C>T
ENST00000622457.1:c.385-953C>T
ENST00000622565.4:n.727-953C>T
NM_001042544.1:c.3669C>T	NP_001036009.1:p.Cys1223=
NM_001042545.1:c.3468C>T	NP_001036010.1:p.Cys1156=
NM_003573.2:c.3558C>T	NP_003564.2:p.Cys1186=
XM_011527376.1:c.3783C>T	XP_011525678.1:p.Cys1261=
XM_011527377.1:c.3702C>T	XP_011525679.1:p.Cys1234=
XM_011527378.1:c.3702C>T	XP_011525680.1:p.Cys1234=
XM_011527379.1:c.3582C>T	XP_011525681.1:p.Cys1194=
XM_011527380.1:c.3576C>T	XP_011525682.1:p.Cys1192=
XM_011527381.1:c.3576C>T	XP_011525683.1:p.Cys1192=
XM_011527382.1:c.3459C>T	XP_011525684.1:p.Cys1153=
XM_011527383.1:c.3452-953C>T	XP_011525685.1:n.3452-953C>T
XM_011527384.1:c.3326-953C>T	XP_011525686.1:n.3326-953C>T
XM_011527385.1:c.3320-953C>T	XP_011525687.1:n.3320-953C>T
XM_011527386.1:c.3194-953C>T	XP_011525688.1:n.3194-953C>T
XM_011527387.1:c.3060C>T	XP_011525689.1:p.Cys1020=
XM_011527376.2:c.3783C>T	XP_011525678.1:p.Cys1261=
XM_011527377.2:c.3702C>T	XP_011525679.1:p.Cys1234=
XM_011527378.2:c.3702C>T	XP_011525680.1:p.Cys1234=
XM_011527380.2:c.3576C>T	XP_011525682.1:p.Cys1192=
XM_011527381.2:c.3576C>T	XP_011525683.1:p.Cys1192=
XM_011527382.2:c.3459C>T	XP_011525684.1:p.Cys1153=
XM_011527383.2:c.3452-953C>T	XP_011525685.1:n.3452-953C>T
XM_011527384.2:c.3326-953C>T	XP_011525686.1:n.3326-953C>T
XM_011527385.2:c.3320-953C>T	XP_011525687.1:n.3320-953C>T
XM_011527386.2:c.3194-953C>T	XP_011525688.1:n.3194-953C>T
XM_017027352.1:c.3570C>T	XP_016882841.1:p.Cys1190=
XM_017027353.1:c.3444C>T	XP_016882842.1:p.Cys1148=
XM_017027354.1:c.3200-953C>T	XP_016882843.1:n.3200-953C>T
NM_001042545.2:c.3468C>T MANE Select	NP_001036010.1:p.Cys1156=