Canonical Allele Identifier: CA405933629
Gene: LTBP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40605619C>G , CM000681.2:g.40605619C>G GRCh38
NC_000019.9:g.41111525C>G , CM000681.1:g.41111525C>G GRCh37
NC_000019.8:g.45803365C>G NCBI36
NG_021201.1:g.17454C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396819.8:c.657C>G MANE Select ENSP00000380031.5:p.Phe219Leu
ENST00000204005.13:c.747C>G ENSP00000204005.10:p.Phe249Leu
ENST00000308370.11:c.858C>G ENSP00000311905.8:p.Phe286Leu
ENST00000396819.7:c.657C>G ENSP00000380031.4:p.Phe219Leu
ENST00000598717.5:n.428+5516C>G
NM_001042544.1:c.858C>G NP_001036009.1:p.Phe286Leu
NM_001042545.1:c.657C>G NP_001036010.1:p.Phe219Leu
NM_003573.2:c.747C>G NP_003564.2:p.Phe249Leu
XM_011527376.1:c.858C>G XP_011525678.1:p.Phe286Leu
XM_011527377.1:c.891C>G XP_011525679.1:p.Phe297Leu
XM_011527378.1:c.891C>G XP_011525680.1:p.Phe297Leu
XM_011527379.1:c.657C>G XP_011525681.1:p.Phe219Leu
XM_011527380.1:c.891C>G XP_011525682.1:p.Phe297Leu
XM_011527381.1:c.891C>G XP_011525683.1:p.Phe297Leu
XM_011527382.1:c.891C>G XP_011525684.1:p.Phe297Leu
XM_011527383.1:c.891C>G XP_011525685.1:p.Phe297Leu
XM_011527384.1:c.891C>G XP_011525686.1:p.Phe297Leu
XM_011527385.1:c.891C>G XP_011525687.1:p.Phe297Leu
XM_011527386.1:c.891C>G XP_011525688.1:p.Phe297Leu
XM_011527387.1:c.249C>G XP_011525689.1:p.Phe83Leu
XM_011527376.2:c.858C>G XP_011525678.1:p.Phe286Leu
XM_011527377.2:c.891C>G XP_011525679.1:p.Phe297Leu
XM_011527378.2:c.891C>G XP_011525680.1:p.Phe297Leu
XM_011527380.2:c.891C>G XP_011525682.1:p.Phe297Leu
XM_011527381.2:c.891C>G XP_011525683.1:p.Phe297Leu
XM_011527382.2:c.891C>G XP_011525684.1:p.Phe297Leu
XM_011527383.2:c.891C>G XP_011525685.1:p.Phe297Leu
XM_011527384.2:c.891C>G XP_011525686.1:p.Phe297Leu
XM_011527385.2:c.891C>G XP_011525687.1:p.Phe297Leu
XM_011527386.2:c.891C>G XP_011525688.1:p.Phe297Leu
XM_017027352.1:c.891C>G XP_016882841.1:p.Phe297Leu
XM_017027353.1:c.891C>G XP_016882842.1:p.Phe297Leu
XM_017027354.1:c.891C>G XP_016882843.1:p.Phe297Leu
NM_001042545.2:c.657C>G MANE Select NP_001036010.1:p.Phe219Leu