Canonical Allele Identifier: CA405906856

Gene: LTBP4

Linked Data

• gnomAD v4: 19-40622611-T-C
• MyVariant Identifiers: chr19:g.41128516T>C (hg19) ; chr19:g.40622611T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622611T>C , CM000681.2:g.40622611T>C	GRCh38
NC_000019.9:g.41128516T>C , CM000681.1:g.41128516T>C	GRCh37
NC_000019.8:g.45820356T>C	NCBI36
NG_021201.1:g.34446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3428T>C MANE Select	ENSP00000380031.5:p.Val1143Ala
ENST00000204005.13:c.3518T>C	ENSP00000204005.10:p.Val1173Ala
ENST00000243562.13:c.1627T>C
ENST00000308370.11:c.3629T>C	ENSP00000311905.8:p.Val1210Ala
ENST00000318809.11:n.484-993T>C
ENST00000396819.7:c.3428T>C	ENSP00000380031.4:p.Val1143Ala
ENST00000593463.5:c.535-993T>C
ENST00000594116.1:n.224T>C
ENST00000595118.5:n.933T>C
ENST00000595665.1:n.535-993T>C
ENST00000597816.5:n.453-993T>C
ENST00000599724.5:c.485-993T>C	ENSP00000469785.1:n.485-993T>C
ENST00000601032.5:c.1065T>C
ENST00000622107.4:n.545-993T>C
ENST00000622457.1:c.385-993T>C
ENST00000622565.4:n.727-993T>C
NM_001042544.1:c.3629T>C	NP_001036009.1:p.Val1210Ala
NM_001042545.1:c.3428T>C	NP_001036010.1:p.Val1143Ala
NM_003573.2:c.3518T>C	NP_003564.2:p.Val1173Ala
XM_011527376.1:c.3743T>C	XP_011525678.1:p.Val1248Ala
XM_011527377.1:c.3662T>C	XP_011525679.1:p.Val1221Ala
XM_011527378.1:c.3662T>C	XP_011525680.1:p.Val1221Ala
XM_011527379.1:c.3542T>C	XP_011525681.1:p.Val1181Ala
XM_011527380.1:c.3536T>C	XP_011525682.1:p.Val1179Ala
XM_011527381.1:c.3536T>C	XP_011525683.1:p.Val1179Ala
XM_011527382.1:c.3419T>C	XP_011525684.1:p.Val1140Ala
XM_011527383.1:c.3452-993T>C	XP_011525685.1:n.3452-993T>C
XM_011527384.1:c.3326-993T>C	XP_011525686.1:n.3326-993T>C
XM_011527385.1:c.3320-993T>C	XP_011525687.1:n.3320-993T>C
XM_011527386.1:c.3194-993T>C	XP_011525688.1:n.3194-993T>C
XM_011527387.1:c.3020T>C	XP_011525689.1:p.Val1007Ala
XM_011527376.2:c.3743T>C	XP_011525678.1:p.Val1248Ala
XM_011527377.2:c.3662T>C	XP_011525679.1:p.Val1221Ala
XM_011527378.2:c.3662T>C	XP_011525680.1:p.Val1221Ala
XM_011527380.2:c.3536T>C	XP_011525682.1:p.Val1179Ala
XM_011527381.2:c.3536T>C	XP_011525683.1:p.Val1179Ala
XM_011527382.2:c.3419T>C	XP_011525684.1:p.Val1140Ala
XM_011527383.2:c.3452-993T>C	XP_011525685.1:n.3452-993T>C
XM_011527384.2:c.3326-993T>C	XP_011525686.1:n.3326-993T>C
XM_011527385.2:c.3320-993T>C	XP_011525687.1:n.3320-993T>C
XM_011527386.2:c.3194-993T>C	XP_011525688.1:n.3194-993T>C
XM_017027352.1:c.3530T>C	XP_016882841.1:p.Val1177Ala
XM_017027353.1:c.3404T>C	XP_016882842.1:p.Val1135Ala
XM_017027354.1:c.3200-993T>C	XP_016882843.1:n.3200-993T>C
NM_001042545.2:c.3428T>C MANE Select	NP_001036010.1:p.Val1143Ala