Canonical Allele Identifier: CA9449001

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622629G>C , CM000681.2:g.40622629G>C	GRCh38
NC_000019.9:g.41128534G>C , CM000681.1:g.41128534G>C	GRCh37
NC_000019.8:g.45820374G>C	NCBI36
NG_021201.1:g.34464G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.3446G>C MANE Select	NP_001036010.1:p.Ser1149Thr
ENST00000396819.8:c.3446G>C MANE Select	ENSP00000380031.5:p.Ser1149Thr
NM_001042544.1:c.3647G>C	NP_001036009.1:p.Ser1216Thr
NM_001042545.1:c.3446G>C	NP_001036010.1:p.Ser1149Thr
NM_003573.2:c.3536G>C	NP_003564.2:p.Ser1179Thr
ENST00000204005.13:c.3536G>C	ENSP00000204005.10:p.Ser1179Thr
ENST00000243562.13:c.1645G>C
ENST00000308370.11:c.3647G>C	ENSP00000311905.8:p.Ser1216Thr
ENST00000318809.11:n.484-975G>C
ENST00000396819.7:c.3446G>C	ENSP00000380031.4:p.Ser1149Thr
ENST00000593463.5:c.535-975G>C
ENST00000594116.1:n.242G>C
ENST00000595118.5:n.951G>C
ENST00000595665.1:n.535-975G>C
ENST00000597816.5:n.453-975G>C
ENST00000599724.5:c.485-975G>C	ENSP00000469785.1:n.485-975G>C
ENST00000601032.5:c.1083G>C
ENST00000622107.4:n.545-975G>C
ENST00000622457.1:c.385-975G>C
ENST00000622565.4:n.727-975G>C
XM_011527376.1:c.3761G>C	XP_011525678.1:p.Ser1254Thr
XM_011527376.2:c.3761G>C	XP_011525678.1:p.Ser1254Thr
XM_011527377.1:c.3680G>C	XP_011525679.1:p.Ser1227Thr
XM_011527377.2:c.3680G>C	XP_011525679.1:p.Ser1227Thr
XM_011527378.1:c.3680G>C	XP_011525680.1:p.Ser1227Thr
XM_011527378.2:c.3680G>C	XP_011525680.1:p.Ser1227Thr
XM_011527379.1:c.3560G>C	XP_011525681.1:p.Ser1187Thr
XM_011527380.1:c.3554G>C	XP_011525682.1:p.Ser1185Thr
XM_011527380.2:c.3554G>C	XP_011525682.1:p.Ser1185Thr
XM_011527381.1:c.3554G>C	XP_011525683.1:p.Ser1185Thr
XM_011527381.2:c.3554G>C	XP_011525683.1:p.Ser1185Thr
XM_011527382.1:c.3437G>C	XP_011525684.1:p.Ser1146Thr
XM_011527382.2:c.3437G>C	XP_011525684.1:p.Ser1146Thr
XM_011527383.1:c.3452-975G>C	XP_011525685.1:n.3452-975G>C
XM_011527383.2:c.3452-975G>C	XP_011525685.1:n.3452-975G>C
XM_011527384.1:c.3326-975G>C	XP_011525686.1:n.3326-975G>C
XM_011527384.2:c.3326-975G>C	XP_011525686.1:n.3326-975G>C
XM_011527385.1:c.3320-975G>C	XP_011525687.1:n.3320-975G>C
XM_011527385.2:c.3320-975G>C	XP_011525687.1:n.3320-975G>C
XM_011527386.1:c.3194-975G>C	XP_011525688.1:n.3194-975G>C
XM_011527386.2:c.3194-975G>C	XP_011525688.1:n.3194-975G>C
XM_011527387.1:c.3038G>C	XP_011525689.1:p.Ser1013Thr
XM_017027352.1:c.3548G>C	XP_016882841.1:p.Ser1183Thr
XM_017027353.1:c.3422G>C	XP_016882842.1:p.Ser1141Thr
XM_017027354.1:c.3200-975G>C	XP_016882843.1:n.3200-975G>C