Canonical Allele Identifier: CA9447979

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40601392C>T , CM000681.2:g.40601392C>T	GRCh38
NC_000019.9:g.41107298C>T , CM000681.1:g.41107298C>T	GRCh37
NC_000019.8:g.45799138C>T	NCBI36
NG_021201.1:g.13227C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.5C>T MANE Select	NP_001036010.1:p.Ala2Val
ENST00000396819.8:c.5C>T MANE Select	ENSP00000380031.5:p.Ala2Val
NM_001042544.1:c.451+1215C>T	NP_001036009.1:n.451+1215C>T
NM_001042545.1:c.5C>T	NP_001036010.1:p.Ala2Val
NM_003573.2:c.340+1215C>T	NP_003564.2:n.340+1215C>T
ENST00000204005.13:c.340+1215C>T	ENSP00000204005.10:n.340+1215C>T
ENST00000308370.11:c.451+1215C>T	ENSP00000311905.8:n.451+1215C>T
ENST00000396819.7:c.5C>T	ENSP00000380031.4:p.Ala2Val
ENST00000593738.1:n.194+1215C>T
ENST00000594537.2:c.*186+1215C>T	ENSP00000480629.1:n.*186+1215C>T
ENST00000598717.5:n.428+1289C>T
ENST00000599016.5:c.*186+1215C>T	ENSP00000482179.1:n.*186+1215C>T
ENST00000600026.5:c.*186+1215C>T	ENSP00000483230.1:n.*186+1215C>T
XM_011527376.1:c.451+1215C>T	XP_011525678.1:n.451+1215C>T
XM_011527376.2:c.451+1215C>T	XP_011525678.1:n.451+1215C>T
XM_011527377.1:c.484+1215C>T	XP_011525679.1:n.484+1215C>T
XM_011527377.2:c.484+1215C>T	XP_011525679.1:n.484+1215C>T
XM_011527378.1:c.484+1215C>T	XP_011525680.1:n.484+1215C>T
XM_011527378.2:c.484+1215C>T	XP_011525680.1:n.484+1215C>T
XM_011527379.1:c.5C>T	XP_011525681.1:p.Ala2Val
XM_011527380.1:c.484+1215C>T	XP_011525682.1:n.484+1215C>T
XM_011527380.2:c.484+1215C>T	XP_011525682.1:n.484+1215C>T
XM_011527381.1:c.484+1215C>T	XP_011525683.1:n.484+1215C>T
XM_011527381.2:c.484+1215C>T	XP_011525683.1:n.484+1215C>T
XM_011527382.1:c.484+1215C>T	XP_011525684.1:n.484+1215C>T
XM_011527382.2:c.484+1215C>T	XP_011525684.1:n.484+1215C>T
XM_011527383.1:c.484+1215C>T	XP_011525685.1:n.484+1215C>T
XM_011527383.2:c.484+1215C>T	XP_011525685.1:n.484+1215C>T
XM_011527384.1:c.484+1215C>T	XP_011525686.1:n.484+1215C>T
XM_011527384.2:c.484+1215C>T	XP_011525686.1:n.484+1215C>T
XM_011527385.1:c.484+1215C>T	XP_011525687.1:n.484+1215C>T
XM_011527385.2:c.484+1215C>T	XP_011525687.1:n.484+1215C>T
XM_011527386.1:c.484+1215C>T	XP_011525688.1:n.484+1215C>T
XM_011527386.2:c.484+1215C>T	XP_011525688.1:n.484+1215C>T
XM_011527387.1:c.-159+1215C>T	XP_011525689.1:n.-159+1215C>T
XM_017027352.1:c.484+1215C>T	XP_016882841.1:n.484+1215C>T
XM_017027353.1:c.484+1215C>T	XP_016882842.1:n.484+1215C>T
XM_017027354.1:c.484+1215C>T	XP_016882843.1:n.484+1215C>T