Canonical Allele Identifier: CA346564875
Community Standard Title: NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter)
Gene: LTBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.33364247T>A , CM000664.2:g.33364247T>A GRCh38
NC_000002.11:g.33589314T>A , CM000664.1:g.33589314T>A GRCh37
NC_000002.10:g.33442818T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_206943.4:c.4431T>A MANE Select NP_996826.3:p.Cys1477Ter
ENST00000404816.7:c.4431T>A MANE Select ENSP00000386043.2:p.Cys1477Ter
NM_000627.3:c.3453T>A NP_000618.3:p.Cys1151Ter
NM_000627.4:c.3453T>A NP_000618.4:p.Cys1151Ter
NM_001166264.1:c.3327T>A NP_001159736.1:p.Cys1109Ter
NM_001166264.2:c.3327T>A NP_001159736.2:p.Cys1109Ter
NM_001166265.1:c.3294T>A NP_001159737.1:p.Cys1098Ter
NM_001166265.2:c.3294T>A NP_001159737.2:p.Cys1098Ter
NM_001166266.1:c.3168T>A NP_001159738.1:p.Cys1056Ter
NM_001166266.2:c.3168T>A NP_001159738.2:p.Cys1056Ter
NM_001394905.1:c.4272T>A NP_001381834.1:p.Cys1424Ter
NM_001394906.1:c.3450T>A NP_001381835.1:p.Cys1150Ter
NM_001394907.1:c.3366T>A NP_001381836.1:p.Cys1122Ter
NM_001394908.1:c.3333T>A NP_001381837.1:p.Cys1111Ter
NM_001394909.1:c.3327T>A NP_001381838.1:p.Cys1109Ter
NM_001394910.1:c.3324T>A NP_001381839.1:p.Cys1108Ter
NM_001394911.1:c.3324T>A NP_001381840.1:p.Cys1108Ter
NM_001394912.1:c.3309T>A NP_001381841.1:p.Cys1103Ter
NM_001394913.1:c.3291T>A NP_001381842.1:p.Cys1097Ter
NM_001394914.1:c.3243T>A NP_001381843.1:p.Cys1081Ter
NM_001394915.1:c.3243T>A NP_001381844.1:p.Cys1081Ter
NM_001394916.1:c.3210T>A NP_001381845.1:p.Cys1070Ter
NM_001394917.1:c.3201T>A NP_001381846.1:p.Cys1067Ter
NM_001394918.1:c.3183T>A NP_001381847.1:p.Cys1061Ter
NM_001394919.1:c.3180T>A NP_001381848.1:p.Cys1060Ter
NM_001394920.1:c.3168T>A NP_001381849.1:p.Cys1056Ter
NM_001394921.1:c.3165T>A NP_001381850.1:p.Cys1055Ter
NM_001394923.1:c.3048T>A NP_001381852.1:p.Cys1016Ter
NM_001394924.1:c.3042T>A NP_001381853.1:p.Cys1014Ter
NM_001394925.1:c.3024T>A NP_001381854.1:p.Cys1008Ter
NM_001394926.1:c.3024T>A NP_001381855.1:p.Cys1008Ter
NM_001394927.1:c.2898T>A NP_001381856.1:p.Cys966Ter
NM_206943.2:c.4431T>A NP_996826.2:p.Cys1477Ter
NM_206943.3:c.4431T>A NP_996826.2:p.Cys1477Ter
ENST00000402934.5:c.3288T>A ENSP00000384373.1:p.Cys1096Ter
ENST00000404525.5:c.3294T>A ENSP00000385359.1:p.Cys1098Ter
ENST00000404816.6:c.4431T>A ENSP00000386043.2:p.Cys1477Ter
ENST00000407925.5:c.3453T>A ENSP00000384091.1:p.Cys1151Ter
ENST00000418533.6:c.3327T>A ENSP00000393057.2:p.Cys1109Ter
XM_005264317.2:c.4272T>A XP_005264374.1:p.Cys1424Ter
XM_005264317.3:c.4272T>A XP_005264374.1:p.Cys1424Ter
XM_005264318.2:c.4146T>A XP_005264375.1:p.Cys1382Ter
XM_005264318.3:c.4146T>A XP_005264375.1:p.Cys1382Ter
XM_011532853.1:c.4434T>A XP_011531155.1:p.Cys1478Ter
XM_011532853.2:c.4434T>A XP_011531155.1:p.Cys1478Ter
XM_011532854.1:c.4431T>A XP_011531156.1:p.Cys1477Ter
XM_011532855.1:c.4428T>A XP_011531157.1:p.Cys1476Ter
XM_011532855.2:c.4428T>A XP_011531157.1:p.Cys1476Ter
XM_011532856.1:c.4314T>A XP_011531158.1:p.Cys1438Ter
XM_011532856.2:c.4314T>A XP_011531158.1:p.Cys1438Ter
XM_011532857.1:c.4308T>A XP_011531159.1:p.Cys1436Ter
XM_011532857.2:c.4308T>A XP_011531159.1:p.Cys1436Ter
XM_011532858.1:c.4308T>A XP_011531160.1:p.Cys1436Ter
XM_011532858.2:c.4308T>A XP_011531160.1:p.Cys1436Ter
XM_011532859.1:c.4275T>A XP_011531161.1:p.Cys1425Ter
XM_011532859.2:c.4275T>A XP_011531161.1:p.Cys1425Ter
XM_011532860.1:c.4266T>A XP_011531162.1:p.Cys1422Ter
XM_011532860.2:c.4266T>A XP_011531162.1:p.Cys1422Ter
XM_011532861.1:c.4164T>A XP_011531163.1:p.Cys1388Ter
XM_011532861.2:c.4164T>A XP_011531163.1:p.Cys1388Ter
XM_017004108.1:c.4311T>A XP_016859597.1:p.Cys1437Ter
XM_017004109.1:c.4305T>A XP_016859598.1:p.Cys1435Ter
XM_017004110.1:c.4185T>A XP_016859599.1:p.Cys1395Ter
XM_024452888.1:c.3837T>A XP_024308656.1:p.Cys1279Ter
XM_024452889.1:c.3837T>A XP_024308657.1:p.Cys1279Ter
XM_024452890.1:c.3201T>A XP_024308658.1:p.Cys1067Ter