Canonical Allele Identifier: CA9448065

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40605534C>T , CM000681.2:g.40605534C>T	GRCh38
NC_000019.9:g.41111440C>T , CM000681.1:g.41111440C>T	GRCh37
NC_000019.8:g.45803280C>T	NCBI36
NG_021201.1:g.17369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.572C>T MANE Select	ENSP00000380031.5:p.Ala191Val
ENST00000204005.13:c.662C>T	ENSP00000204005.10:p.Ala221Val
ENST00000308370.11:c.773C>T	ENSP00000311905.8:p.Ala258Val
ENST00000396819.7:c.572C>T	ENSP00000380031.4:p.Ala191Val
ENST00000598717.5:n.428+5431C>T
ENST00000599016.5:c.*508C>T	ENSP00000482179.1:n.*508C>T
NM_001042544.1:c.773C>T	NP_001036009.1:p.Ala258Val
NM_001042545.1:c.572C>T	NP_001036010.1:p.Ala191Val
NM_003573.2:c.662C>T	NP_003564.2:p.Ala221Val
XM_011527376.1:c.773C>T	XP_011525678.1:p.Ala258Val
XM_011527377.1:c.806C>T	XP_011525679.1:p.Ala269Val
XM_011527378.1:c.806C>T	XP_011525680.1:p.Ala269Val
XM_011527379.1:c.572C>T	XP_011525681.1:p.Ala191Val
XM_011527380.1:c.806C>T	XP_011525682.1:p.Ala269Val
XM_011527381.1:c.806C>T	XP_011525683.1:p.Ala269Val
XM_011527382.1:c.806C>T	XP_011525684.1:p.Ala269Val
XM_011527383.1:c.806C>T	XP_011525685.1:p.Ala269Val
XM_011527384.1:c.806C>T	XP_011525686.1:p.Ala269Val
XM_011527385.1:c.806C>T	XP_011525687.1:p.Ala269Val
XM_011527386.1:c.806C>T	XP_011525688.1:p.Ala269Val
XM_011527387.1:c.164C>T	XP_011525689.1:p.Ala55Val
XM_011527376.2:c.773C>T	XP_011525678.1:p.Ala258Val
XM_011527377.2:c.806C>T	XP_011525679.1:p.Ala269Val
XM_011527378.2:c.806C>T	XP_011525680.1:p.Ala269Val
XM_011527380.2:c.806C>T	XP_011525682.1:p.Ala269Val
XM_011527381.2:c.806C>T	XP_011525683.1:p.Ala269Val
XM_011527382.2:c.806C>T	XP_011525684.1:p.Ala269Val
XM_011527383.2:c.806C>T	XP_011525685.1:p.Ala269Val
XM_011527384.2:c.806C>T	XP_011525686.1:p.Ala269Val
XM_011527385.2:c.806C>T	XP_011525687.1:p.Ala269Val
XM_011527386.2:c.806C>T	XP_011525688.1:p.Ala269Val
XM_017027352.1:c.806C>T	XP_016882841.1:p.Ala269Val
XM_017027353.1:c.806C>T	XP_016882842.1:p.Ala269Val
XM_017027354.1:c.806C>T	XP_016882843.1:p.Ala269Val
NM_001042545.2:c.572C>T MANE Select	NP_001036010.1:p.Ala191Val