Canonical Allele Identifier: CA507499959
Community Standard Title: NC_000019.10:g.40600110G>C
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40600110G>C , CM000681.2:g.40600110G>C GRCh38
NC_000019.9:g.41106016G>C , CM000681.1:g.41106016G>C GRCh37
NC_000019.8:g.45797856G>C NCBI36
NG_021201.1:g.11945G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042544.1:c.384G>C NP_001036009.1:p.Arg128=
NM_003573.2:c.273G>C NP_003564.2:p.Arg91=
ENST00000204005.13:c.273G>C ENSP00000204005.10:p.Arg91=
ENST00000308370.11:c.384G>C ENSP00000311905.8:p.Arg128=
ENST00000593738.1:n.127G>C
ENST00000594537.2:c.*119G>C ENSP00000480629.1:n.*119G>C
ENST00000598717.5:n.428+7G>C
ENST00000599016.5:c.*119G>C ENSP00000482179.1:n.*119G>C
ENST00000600026.5:c.*119G>C ENSP00000483230.1:n.*119G>C
XM_011527376.1:c.384G>C XP_011525678.1:p.Arg128=
XM_011527376.2:c.384G>C XP_011525678.1:p.Arg128=
XM_011527377.1:c.417G>C XP_011525679.1:p.Arg139=
XM_011527377.2:c.417G>C XP_011525679.1:p.Arg139=
XM_011527378.1:c.417G>C XP_011525680.1:p.Arg139=
XM_011527378.2:c.417G>C XP_011525680.1:p.Arg139=
XM_011527380.1:c.417G>C XP_011525682.1:p.Arg139=
XM_011527380.2:c.417G>C XP_011525682.1:p.Arg139=
XM_011527381.1:c.417G>C XP_011525683.1:p.Arg139=
XM_011527381.2:c.417G>C XP_011525683.1:p.Arg139=
XM_011527382.1:c.417G>C XP_011525684.1:p.Arg139=
XM_011527382.2:c.417G>C XP_011525684.1:p.Arg139=
XM_011527383.1:c.417G>C XP_011525685.1:p.Arg139=
XM_011527383.2:c.417G>C XP_011525685.1:p.Arg139=
XM_011527384.1:c.417G>C XP_011525686.1:p.Arg139=
XM_011527384.2:c.417G>C XP_011525686.1:p.Arg139=
XM_011527385.1:c.417G>C XP_011525687.1:p.Arg139=
XM_011527385.2:c.417G>C XP_011525687.1:p.Arg139=
XM_011527386.1:c.417G>C XP_011525688.1:p.Arg139=
XM_011527386.2:c.417G>C XP_011525688.1:p.Arg139=
XM_011527387.1:c.-226G>C XP_011525689.1:n.-226G>C
XM_017027352.1:c.417G>C XP_016882841.1:p.Arg139=
XM_017027353.1:c.417G>C XP_016882842.1:p.Arg139=
XM_017027354.1:c.417G>C XP_016882843.1:p.Arg139=