Canonical Allele Identifier: CA9448540

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40611965T>C , CM000681.2:g.40611965T>C	GRCh38
NC_000019.9:g.41117871T>C , CM000681.1:g.41117871T>C	GRCh37
NC_000019.8:g.45809711T>C	NCBI36
NG_021201.1:g.23800T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.2160T>C MANE Select	NP_001036010.1:p.Thr720=
ENST00000396819.8:c.2160T>C MANE Select	ENSP00000380031.5:p.Thr720=
NM_001042544.1:c.2361T>C	NP_001036009.1:p.Thr787=
NM_001042545.1:c.2160T>C	NP_001036010.1:p.Thr720=
NM_003573.2:c.2250T>C	NP_003564.2:p.Thr750=
ENST00000204005.13:c.2250T>C	ENSP00000204005.10:p.Thr750=
ENST00000243562.13:c.359T>C
ENST00000308370.11:c.2361T>C	ENSP00000311905.8:p.Thr787=
ENST00000396819.7:c.2160T>C	ENSP00000380031.4:p.Thr720=
ENST00000546155.5:n.597T>C
ENST00000598055.1:n.254T>C
ENST00000598717.5:n.556T>C
ENST00000601032.5:c.55T>C
XM_011527376.1:c.2475T>C	XP_011525678.1:p.Thr825=
XM_011527376.2:c.2475T>C	XP_011525678.1:p.Thr825=
XM_011527377.1:c.2394T>C	XP_011525679.1:p.Thr798=
XM_011527377.2:c.2394T>C	XP_011525679.1:p.Thr798=
XM_011527378.1:c.2394T>C	XP_011525680.1:p.Thr798=
XM_011527378.2:c.2394T>C	XP_011525680.1:p.Thr798=
XM_011527379.1:c.2274T>C	XP_011525681.1:p.Thr758=
XM_011527380.1:c.2268T>C	XP_011525682.1:p.Thr756=
XM_011527380.2:c.2268T>C	XP_011525682.1:p.Thr756=
XM_011527381.1:c.2394T>C	XP_011525683.1:p.Thr798=
XM_011527381.2:c.2394T>C	XP_011525683.1:p.Thr798=
XM_011527382.1:c.2151T>C	XP_011525684.1:p.Thr717=
XM_011527382.2:c.2151T>C	XP_011525684.1:p.Thr717=
XM_011527383.1:c.2394T>C	XP_011525685.1:p.Thr798=
XM_011527383.2:c.2394T>C	XP_011525685.1:p.Thr798=
XM_011527384.1:c.2394T>C	XP_011525686.1:p.Thr798=
XM_011527384.2:c.2394T>C	XP_011525686.1:p.Thr798=
XM_011527385.1:c.2394T>C	XP_011525687.1:p.Thr798=
XM_011527385.2:c.2394T>C	XP_011525687.1:p.Thr798=
XM_011527386.1:c.2394T>C	XP_011525688.1:p.Thr798=
XM_011527386.2:c.2394T>C	XP_011525688.1:p.Thr798=
XM_011527387.1:c.1752T>C	XP_011525689.1:p.Thr584=
XM_017027352.1:c.2394T>C	XP_016882841.1:p.Thr798=
XM_017027353.1:c.2394T>C	XP_016882842.1:p.Thr798=
XM_017027354.1:c.2268T>C	XP_016882843.1:p.Thr756=