Canonical Allele Identifier: CA10652480
Community Standard Title: NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu)
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40627158G>A , CM000681.2:g.40627158G>A GRCh38
NC_000019.9:g.41133063G>A , CM000681.1:g.41133063G>A GRCh37
NC_000019.8:g.45824903G>A NCBI36
NG_021201.1:g.38993G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.4169G>A MANE Select NP_001036010.1:p.Gly1390Glu
ENST00000396819.8:c.4169G>A MANE Select ENSP00000380031.5:p.Gly1390Glu
NM_001042544.1:c.4370G>A NP_001036009.1:p.Gly1457Glu
NM_001042545.1:c.4169G>A NP_001036010.1:p.Gly1390Glu
NM_003573.2:c.4259G>A NP_003564.2:p.Gly1420Glu
ENST00000204005.13:c.4259G>A ENSP00000204005.10:p.Gly1420Glu
ENST00000243562.13:c.2368G>A
ENST00000308370.11:c.4370G>A ENSP00000311905.8:p.Gly1457Glu
ENST00000318809.11:n.1096G>A
ENST00000396819.7:c.4169G>A ENSP00000380031.4:p.Gly1390Glu
ENST00000595118.5:n.1674G>A
ENST00000601032.5:c.1806G>A
XM_011527376.1:c.4484G>A XP_011525678.1:p.Gly1495Glu
XM_011527376.2:c.4484G>A XP_011525678.1:p.Gly1495Glu
XM_011527377.1:c.4403G>A XP_011525679.1:p.Gly1468Glu
XM_011527377.2:c.4403G>A XP_011525679.1:p.Gly1468Glu
XM_011527378.1:c.4331G>A XP_011525680.1:p.Gly1444Glu
XM_011527378.2:c.4331G>A XP_011525680.1:p.Gly1444Glu
XM_011527379.1:c.4283G>A XP_011525681.1:p.Gly1428Glu
XM_011527380.1:c.4277G>A XP_011525682.1:p.Gly1426Glu
XM_011527380.2:c.4277G>A XP_011525682.1:p.Gly1426Glu
XM_011527381.1:c.4277G>A XP_011525683.1:p.Gly1426Glu
XM_011527381.2:c.4277G>A XP_011525683.1:p.Gly1426Glu
XM_011527382.1:c.4160G>A XP_011525684.1:p.Gly1387Glu
XM_011527382.2:c.4160G>A XP_011525684.1:p.Gly1387Glu
XM_011527383.1:c.4064G>A XP_011525685.1:p.Gly1355Glu
XM_011527383.2:c.4064G>A XP_011525685.1:p.Gly1355Glu
XM_011527384.1:c.3938G>A XP_011525686.1:p.Gly1313Glu
XM_011527384.2:c.3938G>A XP_011525686.1:p.Gly1313Glu
XM_011527385.1:c.3932G>A XP_011525687.1:p.Gly1311Glu
XM_011527385.2:c.3932G>A XP_011525687.1:p.Gly1311Glu
XM_011527386.1:c.3806G>A XP_011525688.1:p.Gly1269Glu
XM_011527386.2:c.3806G>A XP_011525688.1:p.Gly1269Glu
XM_011527387.1:c.3761G>A XP_011525689.1:p.Gly1254Glu
XM_017027352.1:c.4271G>A XP_016882841.1:p.Gly1424Glu
XM_017027353.1:c.4145G>A XP_016882842.1:p.Gly1382Glu
XM_017027354.1:c.3812G>A XP_016882843.1:p.Gly1271Glu