Canonical Allele Identifier: CA405906183

Gene: LTBP4

Linked Data

• gnomAD v4: 19-40622560-G-A
• MyVariant Identifiers: chr19:g.41128465G>A (hg19) ; chr19:g.40622560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622560G>A , CM000681.2:g.40622560G>A	GRCh38
NC_000019.9:g.41128465G>A , CM000681.1:g.41128465G>A	GRCh37
NC_000019.8:g.45820305G>A	NCBI36
NG_021201.1:g.34395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3377G>A MANE Select	ENSP00000380031.5:p.Cys1126Tyr
ENST00000204005.13:c.3467G>A	ENSP00000204005.10:p.Cys1156Tyr
ENST00000243562.13:c.1576G>A
ENST00000308370.11:c.3578G>A	ENSP00000311905.8:p.Cys1193Tyr
ENST00000318809.11:n.484-1044G>A
ENST00000396819.7:c.3377G>A	ENSP00000380031.4:p.Cys1126Tyr
ENST00000593463.5:c.535-1044G>A
ENST00000594116.1:n.173G>A
ENST00000595118.5:n.882G>A
ENST00000595665.1:n.535-1044G>A
ENST00000597816.5:n.453-1044G>A
ENST00000599724.5:c.485-1044G>A	ENSP00000469785.1:n.485-1044G>A
ENST00000601032.5:c.1014G>A
ENST00000622107.4:n.545-1044G>A
ENST00000622457.1:c.385-1044G>A
ENST00000622565.4:n.727-1044G>A
NM_001042544.1:c.3578G>A	NP_001036009.1:p.Cys1193Tyr
NM_001042545.1:c.3377G>A	NP_001036010.1:p.Cys1126Tyr
NM_003573.2:c.3467G>A	NP_003564.2:p.Cys1156Tyr
XM_011527376.1:c.3692G>A	XP_011525678.1:p.Cys1231Tyr
XM_011527377.1:c.3611G>A	XP_011525679.1:p.Cys1204Tyr
XM_011527378.1:c.3611G>A	XP_011525680.1:p.Cys1204Tyr
XM_011527379.1:c.3491G>A	XP_011525681.1:p.Cys1164Tyr
XM_011527380.1:c.3485G>A	XP_011525682.1:p.Cys1162Tyr
XM_011527381.1:c.3485G>A	XP_011525683.1:p.Cys1162Tyr
XM_011527382.1:c.3368G>A	XP_011525684.1:p.Cys1123Tyr
XM_011527383.1:c.3452-1044G>A	XP_011525685.1:n.3452-1044G>A
XM_011527384.1:c.3326-1044G>A	XP_011525686.1:n.3326-1044G>A
XM_011527385.1:c.3320-1044G>A	XP_011525687.1:n.3320-1044G>A
XM_011527386.1:c.3194-1044G>A	XP_011525688.1:n.3194-1044G>A
XM_011527387.1:c.2969G>A	XP_011525689.1:p.Cys990Tyr
XM_011527376.2:c.3692G>A	XP_011525678.1:p.Cys1231Tyr
XM_011527377.2:c.3611G>A	XP_011525679.1:p.Cys1204Tyr
XM_011527378.2:c.3611G>A	XP_011525680.1:p.Cys1204Tyr
XM_011527380.2:c.3485G>A	XP_011525682.1:p.Cys1162Tyr
XM_011527381.2:c.3485G>A	XP_011525683.1:p.Cys1162Tyr
XM_011527382.2:c.3368G>A	XP_011525684.1:p.Cys1123Tyr
XM_011527383.2:c.3452-1044G>A	XP_011525685.1:n.3452-1044G>A
XM_011527384.2:c.3326-1044G>A	XP_011525686.1:n.3326-1044G>A
XM_011527385.2:c.3320-1044G>A	XP_011525687.1:n.3320-1044G>A
XM_011527386.2:c.3194-1044G>A	XP_011525688.1:n.3194-1044G>A
XM_017027352.1:c.3479G>A	XP_016882841.1:p.Cys1160Tyr
XM_017027353.1:c.3353G>A	XP_016882842.1:p.Cys1118Tyr
XM_017027354.1:c.3200-1044G>A	XP_016882843.1:n.3200-1044G>A
NM_001042545.2:c.3377G>A MANE Select	NP_001036010.1:p.Cys1126Tyr