Canonical Allele Identifier: CA405933228
Community Standard Title: NM_001042545.2(LTBP4):c.517G>C (p.Val173Leu)
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40605479G>C , CM000681.2:g.40605479G>C GRCh38
NC_000019.9:g.41111385G>C , CM000681.1:g.41111385G>C GRCh37
NC_000019.8:g.45803225G>C NCBI36
NG_021201.1:g.17314G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.517G>C MANE Select NP_001036010.1:p.Val173Leu
ENST00000396819.8:c.517G>C MANE Select ENSP00000380031.5:p.Val173Leu
NM_001042544.1:c.718G>C NP_001036009.1:p.Val240Leu
NM_001042545.1:c.517G>C NP_001036010.1:p.Val173Leu
NM_003573.2:c.607G>C NP_003564.2:p.Val203Leu
ENST00000204005.13:c.607G>C ENSP00000204005.10:p.Val203Leu
ENST00000308370.11:c.718G>C ENSP00000311905.8:p.Val240Leu
ENST00000396819.7:c.517G>C ENSP00000380031.4:p.Val173Leu
ENST00000598717.5:n.428+5376G>C
ENST00000599016.5:c.*453G>C ENSP00000482179.1:n.*453G>C
XM_011527376.1:c.718G>C XP_011525678.1:p.Val240Leu
XM_011527376.2:c.718G>C XP_011525678.1:p.Val240Leu
XM_011527377.1:c.751G>C XP_011525679.1:p.Val251Leu
XM_011527377.2:c.751G>C XP_011525679.1:p.Val251Leu
XM_011527378.1:c.751G>C XP_011525680.1:p.Val251Leu
XM_011527378.2:c.751G>C XP_011525680.1:p.Val251Leu
XM_011527379.1:c.517G>C XP_011525681.1:p.Val173Leu
XM_011527380.1:c.751G>C XP_011525682.1:p.Val251Leu
XM_011527380.2:c.751G>C XP_011525682.1:p.Val251Leu
XM_011527381.1:c.751G>C XP_011525683.1:p.Val251Leu
XM_011527381.2:c.751G>C XP_011525683.1:p.Val251Leu
XM_011527382.1:c.751G>C XP_011525684.1:p.Val251Leu
XM_011527382.2:c.751G>C XP_011525684.1:p.Val251Leu
XM_011527383.1:c.751G>C XP_011525685.1:p.Val251Leu
XM_011527383.2:c.751G>C XP_011525685.1:p.Val251Leu
XM_011527384.1:c.751G>C XP_011525686.1:p.Val251Leu
XM_011527384.2:c.751G>C XP_011525686.1:p.Val251Leu
XM_011527385.1:c.751G>C XP_011525687.1:p.Val251Leu
XM_011527385.2:c.751G>C XP_011525687.1:p.Val251Leu
XM_011527386.1:c.751G>C XP_011525688.1:p.Val251Leu
XM_011527386.2:c.751G>C XP_011525688.1:p.Val251Leu
XM_011527387.1:c.109G>C XP_011525689.1:p.Val37Leu
XM_017027352.1:c.751G>C XP_016882841.1:p.Val251Leu
XM_017027353.1:c.751G>C XP_016882842.1:p.Val251Leu
XM_017027354.1:c.751G>C XP_016882843.1:p.Val251Leu