Canonical Allele Identifier: CA405907047

Gene: LTBP4

Linked Data

• dbSNP Id: rs1289160935
• gnomAD v4: 19-40622640-A-G
• MyVariant Identifiers: chr19:g.41128545A>G (hg19) ; chr19:g.40622640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622640A>G , CM000681.2:g.40622640A>G	GRCh38
NC_000019.9:g.41128545A>G , CM000681.1:g.41128545A>G	GRCh37
NC_000019.8:g.45820385A>G	NCBI36
NG_021201.1:g.34475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3457A>G MANE Select	ENSP00000380031.5:p.Ile1153Val
ENST00000204005.13:c.3547A>G	ENSP00000204005.10:p.Ile1183Val
ENST00000243562.13:c.1656A>G
ENST00000308370.11:c.3658A>G	ENSP00000311905.8:p.Ile1220Val
ENST00000318809.11:n.484-964A>G
ENST00000396819.7:c.3457A>G	ENSP00000380031.4:p.Ile1153Val
ENST00000593463.5:c.535-964A>G
ENST00000594116.1:n.253A>G
ENST00000595118.5:n.962A>G
ENST00000595665.1:n.535-964A>G
ENST00000597816.5:n.453-964A>G
ENST00000599724.5:c.485-964A>G	ENSP00000469785.1:n.485-964A>G
ENST00000601032.5:c.1094A>G
ENST00000622107.4:n.545-964A>G
ENST00000622457.1:c.385-964A>G
ENST00000622565.4:n.727-964A>G
NM_001042544.1:c.3658A>G	NP_001036009.1:p.Ile1220Val
NM_001042545.1:c.3457A>G	NP_001036010.1:p.Ile1153Val
NM_003573.2:c.3547A>G	NP_003564.2:p.Ile1183Val
XM_011527376.1:c.3772A>G	XP_011525678.1:p.Ile1258Val
XM_011527377.1:c.3691A>G	XP_011525679.1:p.Ile1231Val
XM_011527378.1:c.3691A>G	XP_011525680.1:p.Ile1231Val
XM_011527379.1:c.3571A>G	XP_011525681.1:p.Ile1191Val
XM_011527380.1:c.3565A>G	XP_011525682.1:p.Ile1189Val
XM_011527381.1:c.3565A>G	XP_011525683.1:p.Ile1189Val
XM_011527382.1:c.3448A>G	XP_011525684.1:p.Ile1150Val
XM_011527383.1:c.3452-964A>G	XP_011525685.1:n.3452-964A>G
XM_011527384.1:c.3326-964A>G	XP_011525686.1:n.3326-964A>G
XM_011527385.1:c.3320-964A>G	XP_011525687.1:n.3320-964A>G
XM_011527386.1:c.3194-964A>G	XP_011525688.1:n.3194-964A>G
XM_011527387.1:c.3049A>G	XP_011525689.1:p.Ile1017Val
XM_011527376.2:c.3772A>G	XP_011525678.1:p.Ile1258Val
XM_011527377.2:c.3691A>G	XP_011525679.1:p.Ile1231Val
XM_011527378.2:c.3691A>G	XP_011525680.1:p.Ile1231Val
XM_011527380.2:c.3565A>G	XP_011525682.1:p.Ile1189Val
XM_011527381.2:c.3565A>G	XP_011525683.1:p.Ile1189Val
XM_011527382.2:c.3448A>G	XP_011525684.1:p.Ile1150Val
XM_011527383.2:c.3452-964A>G	XP_011525685.1:n.3452-964A>G
XM_011527384.2:c.3326-964A>G	XP_011525686.1:n.3326-964A>G
XM_011527385.2:c.3320-964A>G	XP_011525687.1:n.3320-964A>G
XM_011527386.2:c.3194-964A>G	XP_011525688.1:n.3194-964A>G
XM_017027352.1:c.3559A>G	XP_016882841.1:p.Ile1187Val
XM_017027353.1:c.3433A>G	XP_016882842.1:p.Ile1145Val
XM_017027354.1:c.3200-964A>G	XP_016882843.1:n.3200-964A>G
NM_001042545.2:c.3457A>G MANE Select	NP_001036010.1:p.Ile1153Val