Canonical Allele Identifier: CA308449941
Community Standard Title: NM_001042545.2(LTBP4):c.1426+58C>T
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40608661C>T , CM000681.2:g.40608661C>T GRCh38
NC_000019.9:g.41114567C>T , CM000681.1:g.41114567C>T GRCh37
NC_000019.8:g.45806407C>T NCBI36
NG_021201.1:g.20496C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.1426+58C>T MANE Select NP_001036010.1:n.1426+58C>T
ENST00000396819.8:c.1426+58C>T MANE Select ENSP00000380031.5:n.1426+58C>T
NM_001042544.1:c.1627+58C>T NP_001036009.1:n.1627+58C>T
NM_001042545.1:c.1426+58C>T NP_001036010.1:n.1426+58C>T
NM_003573.2:c.1516+58C>T NP_003564.2:n.1516+58C>T
ENST00000204005.13:c.1516+58C>T ENSP00000204005.10:n.1516+58C>T
ENST00000308370.11:c.1627+58C>T ENSP00000311905.8:n.1627+58C>T
ENST00000396819.7:c.1426+58C>T ENSP00000380031.4:n.1426+58C>T
ENST00000595529.1:n.554C>T
ENST00000598717.5:n.429-2713C>T
XM_011527376.1:c.1741+58C>T XP_011525678.1:n.1741+58C>T
XM_011527376.2:c.1741+58C>T XP_011525678.1:n.1741+58C>T
XM_011527377.1:c.1660+58C>T XP_011525679.1:n.1660+58C>T
XM_011527377.2:c.1660+58C>T XP_011525679.1:n.1660+58C>T
XM_011527378.1:c.1660+58C>T XP_011525680.1:n.1660+58C>T
XM_011527378.2:c.1660+58C>T XP_011525680.1:n.1660+58C>T
XM_011527379.1:c.1540+58C>T XP_011525681.1:n.1540+58C>T
XM_011527380.1:c.1660+58C>T XP_011525682.1:n.1660+58C>T
XM_011527380.2:c.1660+58C>T XP_011525682.1:n.1660+58C>T
XM_011527381.1:c.1660+58C>T XP_011525683.1:n.1660+58C>T
XM_011527381.2:c.1660+58C>T XP_011525683.1:n.1660+58C>T
XM_011527382.1:c.1660+58C>T XP_011525684.1:n.1660+58C>T
XM_011527382.2:c.1660+58C>T XP_011525684.1:n.1660+58C>T
XM_011527383.1:c.1660+58C>T XP_011525685.1:n.1660+58C>T
XM_011527383.2:c.1660+58C>T XP_011525685.1:n.1660+58C>T
XM_011527384.1:c.1660+58C>T XP_011525686.1:n.1660+58C>T
XM_011527384.2:c.1660+58C>T XP_011525686.1:n.1660+58C>T
XM_011527385.1:c.1660+58C>T XP_011525687.1:n.1660+58C>T
XM_011527385.2:c.1660+58C>T XP_011525687.1:n.1660+58C>T
XM_011527386.1:c.1660+58C>T XP_011525688.1:n.1660+58C>T
XM_011527386.2:c.1660+58C>T XP_011525688.1:n.1660+58C>T
XM_011527387.1:c.1018+58C>T XP_011525689.1:n.1018+58C>T
XM_017027352.1:c.1660+58C>T XP_016882841.1:n.1660+58C>T
XM_017027353.1:c.1660+58C>T XP_016882842.1:n.1660+58C>T
XM_017027354.1:c.1660+58C>T XP_016882843.1:n.1660+58C>T