Canonical Allele Identifier: CA308438628
Community Standard Title: NM_001042545.2(LTBP4):c.*259C>G
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40629809C>G , CM000681.2:g.40629809C>G GRCh38
NC_000019.9:g.41135714C>G , CM000681.1:g.41135714C>G GRCh37
NC_000019.8:g.45827554C>G NCBI36
NG_021201.1:g.41644C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.*259C>G MANE Select NP_001036010.1:n.*259C>G
ENST00000396819.8:c.*259C>G MANE Select ENSP00000380031.5:n.*259C>G
NM_001042544.1:c.5134C>G NP_001036009.1:n.5134C>G
NM_001042545.1:c.*259C>G NP_001036010.1:n.*259C>G
NM_003573.2:c.5023C>G NP_003564.2:n.5023C>G
ENST00000204005.13:c.5023C>G ENSP00000204005.10:n.5023C>G
ENST00000243562.13:c.3132C>G
ENST00000595118.5:n.2438C>G
ENST00000598166.2:c.697C>G ENSP00000481081.1:n.697C>G
XM_011527376.1:c.*259C>G XP_011525678.1:n.*259C>G
XM_011527376.2:c.*259C>G XP_011525678.1:n.*259C>G
XM_011527377.1:c.*259C>G XP_011525679.1:n.*259C>G
XM_011527377.2:c.*259C>G XP_011525679.1:n.*259C>G
XM_011527378.1:c.*259C>G XP_011525680.1:n.*259C>G
XM_011527378.2:c.*259C>G XP_011525680.1:n.*259C>G
XM_011527379.1:c.*259C>G XP_011525681.1:n.*259C>G
XM_011527380.1:c.*259C>G XP_011525682.1:n.*259C>G
XM_011527380.2:c.*259C>G XP_011525682.1:n.*259C>G
XM_011527381.1:c.*259C>G XP_011525683.1:n.*259C>G
XM_011527381.2:c.*259C>G XP_011525683.1:n.*259C>G
XM_011527382.1:c.*259C>G XP_011525684.1:n.*259C>G
XM_011527382.2:c.*259C>G XP_011525684.1:n.*259C>G
XM_011527383.1:c.*259C>G XP_011525685.1:n.*259C>G
XM_011527383.2:c.*259C>G XP_011525685.1:n.*259C>G
XM_011527384.1:c.*259C>G XP_011525686.1:n.*259C>G
XM_011527384.2:c.*259C>G XP_011525686.1:n.*259C>G
XM_011527385.1:c.*259C>G XP_011525687.1:n.*259C>G
XM_011527385.2:c.*259C>G XP_011525687.1:n.*259C>G
XM_011527386.1:c.*259C>G XP_011525688.1:n.*259C>G
XM_011527386.2:c.*259C>G XP_011525688.1:n.*259C>G
XM_011527387.1:c.*259C>G XP_011525689.1:n.*259C>G
XM_017027352.1:c.*259C>G XP_016882841.1:n.*259C>G
XM_017027353.1:c.*259C>G XP_016882842.1:n.*259C>G
XM_017027354.1:c.*259C>G XP_016882843.1:n.*259C>G