Canonical Allele Identifier: CA9448453

Gene: LTBP4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40611175C>G , CM000681.2:g.40611175C>G	GRCh38
NC_000019.9:g.41117081C>G , CM000681.1:g.41117081C>G	GRCh37
NC_000019.8:g.45808921C>G	NCBI36
NG_021201.1:g.23010C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042545.2:c.1834C>G MANE Select	NP_001036010.1:p.Pro612Ala
ENST00000396819.8:c.1834C>G MANE Select	ENSP00000380031.5:p.Pro612Ala
NM_001042544.1:c.2035C>G	NP_001036009.1:p.Pro679Ala
NM_001042545.1:c.1834C>G	NP_001036010.1:p.Pro612Ala
NM_003573.2:c.1924C>G	NP_003564.2:p.Pro642Ala
ENST00000204005.13:c.1924C>G	ENSP00000204005.10:p.Pro642Ala
ENST00000243562.13:c.252+518C>G
ENST00000308370.11:c.2035C>G	ENSP00000311905.8:p.Pro679Ala
ENST00000396819.7:c.1834C>G	ENSP00000380031.4:p.Pro612Ala
ENST00000546155.5:n.490+518C>G
ENST00000598055.1:n.147+264C>G
ENST00000598256.1:n.469C>G
ENST00000598717.5:n.429-199C>G
XM_011527376.1:c.2149C>G	XP_011525678.1:p.Pro717Ala
XM_011527376.2:c.2149C>G	XP_011525678.1:p.Pro717Ala
XM_011527377.1:c.2068C>G	XP_011525679.1:p.Pro690Ala
XM_011527377.2:c.2068C>G	XP_011525679.1:p.Pro690Ala
XM_011527378.1:c.2068C>G	XP_011525680.1:p.Pro690Ala
XM_011527378.2:c.2068C>G	XP_011525680.1:p.Pro690Ala
XM_011527379.1:c.1948C>G	XP_011525681.1:p.Pro650Ala
XM_011527380.1:c.1942C>G	XP_011525682.1:p.Pro648Ala
XM_011527380.2:c.1942C>G	XP_011525682.1:p.Pro648Ala
XM_011527381.1:c.2068C>G	XP_011525683.1:p.Pro690Ala
XM_011527381.2:c.2068C>G	XP_011525683.1:p.Pro690Ala
XM_011527382.1:c.2044+518C>G	XP_011525684.1:n.2044+518C>G
XM_011527382.2:c.2044+518C>G	XP_011525684.1:n.2044+518C>G
XM_011527383.1:c.2068C>G	XP_011525685.1:p.Pro690Ala
XM_011527383.2:c.2068C>G	XP_011525685.1:p.Pro690Ala
XM_011527384.1:c.2068C>G	XP_011525686.1:p.Pro690Ala
XM_011527384.2:c.2068C>G	XP_011525686.1:p.Pro690Ala
XM_011527385.1:c.2068C>G	XP_011525687.1:p.Pro690Ala
XM_011527385.2:c.2068C>G	XP_011525687.1:p.Pro690Ala
XM_011527386.1:c.2068C>G	XP_011525688.1:p.Pro690Ala
XM_011527386.2:c.2068C>G	XP_011525688.1:p.Pro690Ala
XM_011527387.1:c.1426C>G	XP_011525689.1:p.Pro476Ala
XM_017027352.1:c.2068C>G	XP_016882841.1:p.Pro690Ala
XM_017027353.1:c.2068C>G	XP_016882842.1:p.Pro690Ala
XM_017027354.1:c.1942C>G	XP_016882843.1:p.Pro648Ala