Canonical Allele Identifier: CA405906970

Gene: LTBP4

Linked Data

• MyVariant Identifiers: chr19:g.41128533A>T (hg19) ; chr19:g.40622628A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622628A>T , CM000681.2:g.40622628A>T	GRCh38
NC_000019.9:g.41128533A>T , CM000681.1:g.41128533A>T	GRCh37
NC_000019.8:g.45820373A>T	NCBI36
NG_021201.1:g.34463A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3445A>T MANE Select	ENSP00000380031.5:p.Ser1149Cys
ENST00000204005.13:c.3535A>T	ENSP00000204005.10:p.Ser1179Cys
ENST00000243562.13:c.1644A>T
ENST00000308370.11:c.3646A>T	ENSP00000311905.8:p.Ser1216Cys
ENST00000318809.11:n.484-976A>T
ENST00000396819.7:c.3445A>T	ENSP00000380031.4:p.Ser1149Cys
ENST00000593463.5:c.535-976A>T
ENST00000594116.1:n.241A>T
ENST00000595118.5:n.950A>T
ENST00000595665.1:n.535-976A>T
ENST00000597816.5:n.453-976A>T
ENST00000599724.5:c.485-976A>T	ENSP00000469785.1:n.485-976A>T
ENST00000601032.5:c.1082A>T
ENST00000622107.4:n.545-976A>T
ENST00000622457.1:c.385-976A>T
ENST00000622565.4:n.727-976A>T
NM_001042544.1:c.3646A>T	NP_001036009.1:p.Ser1216Cys
NM_001042545.1:c.3445A>T	NP_001036010.1:p.Ser1149Cys
NM_003573.2:c.3535A>T	NP_003564.2:p.Ser1179Cys
XM_011527376.1:c.3760A>T	XP_011525678.1:p.Ser1254Cys
XM_011527377.1:c.3679A>T	XP_011525679.1:p.Ser1227Cys
XM_011527378.1:c.3679A>T	XP_011525680.1:p.Ser1227Cys
XM_011527379.1:c.3559A>T	XP_011525681.1:p.Ser1187Cys
XM_011527380.1:c.3553A>T	XP_011525682.1:p.Ser1185Cys
XM_011527381.1:c.3553A>T	XP_011525683.1:p.Ser1185Cys
XM_011527382.1:c.3436A>T	XP_011525684.1:p.Ser1146Cys
XM_011527383.1:c.3452-976A>T	XP_011525685.1:n.3452-976A>T
XM_011527384.1:c.3326-976A>T	XP_011525686.1:n.3326-976A>T
XM_011527385.1:c.3320-976A>T	XP_011525687.1:n.3320-976A>T
XM_011527386.1:c.3194-976A>T	XP_011525688.1:n.3194-976A>T
XM_011527387.1:c.3037A>T	XP_011525689.1:p.Ser1013Cys
XM_011527376.2:c.3760A>T	XP_011525678.1:p.Ser1254Cys
XM_011527377.2:c.3679A>T	XP_011525679.1:p.Ser1227Cys
XM_011527378.2:c.3679A>T	XP_011525680.1:p.Ser1227Cys
XM_011527380.2:c.3553A>T	XP_011525682.1:p.Ser1185Cys
XM_011527381.2:c.3553A>T	XP_011525683.1:p.Ser1185Cys
XM_011527382.2:c.3436A>T	XP_011525684.1:p.Ser1146Cys
XM_011527383.2:c.3452-976A>T	XP_011525685.1:n.3452-976A>T
XM_011527384.2:c.3326-976A>T	XP_011525686.1:n.3326-976A>T
XM_011527385.2:c.3320-976A>T	XP_011525687.1:n.3320-976A>T
XM_011527386.2:c.3194-976A>T	XP_011525688.1:n.3194-976A>T
XM_017027352.1:c.3547A>T	XP_016882841.1:p.Ser1183Cys
XM_017027353.1:c.3421A>T	XP_016882842.1:p.Ser1141Cys
XM_017027354.1:c.3200-976A>T	XP_016882843.1:n.3200-976A>T
NM_001042545.2:c.3445A>T MANE Select	NP_001036010.1:p.Ser1149Cys