Canonical Allele Identifier: CA405907069

Gene: LTBP4

Linked Data

• gnomAD v4: 19-40622646-C-T
• MyVariant Identifiers: chr19:g.41128551C>T (hg19) ; chr19:g.40622646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622646C>T , CM000681.2:g.40622646C>T	GRCh38
NC_000019.9:g.41128551C>T , CM000681.1:g.41128551C>T	GRCh37
NC_000019.8:g.45820391C>T	NCBI36
NG_021201.1:g.34481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3463C>T MANE Select	ENSP00000380031.5:p.Gln1155Ter
ENST00000204005.13:c.3553C>T	ENSP00000204005.10:p.Gln1185Ter
ENST00000243562.13:c.1662C>T
ENST00000308370.11:c.3664C>T	ENSP00000311905.8:p.Gln1222Ter
ENST00000318809.11:n.484-958C>T
ENST00000396819.7:c.3463C>T	ENSP00000380031.4:p.Gln1155Ter
ENST00000593463.5:c.535-958C>T
ENST00000594116.1:n.259C>T
ENST00000595118.5:n.968C>T
ENST00000595665.1:n.535-958C>T
ENST00000597816.5:n.453-958C>T
ENST00000599724.5:c.485-958C>T	ENSP00000469785.1:n.485-958C>T
ENST00000601032.5:c.1100C>T
ENST00000622107.4:n.545-958C>T
ENST00000622457.1:c.385-958C>T
ENST00000622565.4:n.727-958C>T
NM_001042544.1:c.3664C>T	NP_001036009.1:p.Gln1222Ter
NM_001042545.1:c.3463C>T	NP_001036010.1:p.Gln1155Ter
NM_003573.2:c.3553C>T	NP_003564.2:p.Gln1185Ter
XM_011527376.1:c.3778C>T	XP_011525678.1:p.Gln1260Ter
XM_011527377.1:c.3697C>T	XP_011525679.1:p.Gln1233Ter
XM_011527378.1:c.3697C>T	XP_011525680.1:p.Gln1233Ter
XM_011527379.1:c.3577C>T	XP_011525681.1:p.Gln1193Ter
XM_011527380.1:c.3571C>T	XP_011525682.1:p.Gln1191Ter
XM_011527381.1:c.3571C>T	XP_011525683.1:p.Gln1191Ter
XM_011527382.1:c.3454C>T	XP_011525684.1:p.Gln1152Ter
XM_011527383.1:c.3452-958C>T	XP_011525685.1:n.3452-958C>T
XM_011527384.1:c.3326-958C>T	XP_011525686.1:n.3326-958C>T
XM_011527385.1:c.3320-958C>T	XP_011525687.1:n.3320-958C>T
XM_011527386.1:c.3194-958C>T	XP_011525688.1:n.3194-958C>T
XM_011527387.1:c.3055C>T	XP_011525689.1:p.Gln1019Ter
XM_011527376.2:c.3778C>T	XP_011525678.1:p.Gln1260Ter
XM_011527377.2:c.3697C>T	XP_011525679.1:p.Gln1233Ter
XM_011527378.2:c.3697C>T	XP_011525680.1:p.Gln1233Ter
XM_011527380.2:c.3571C>T	XP_011525682.1:p.Gln1191Ter
XM_011527381.2:c.3571C>T	XP_011525683.1:p.Gln1191Ter
XM_011527382.2:c.3454C>T	XP_011525684.1:p.Gln1152Ter
XM_011527383.2:c.3452-958C>T	XP_011525685.1:n.3452-958C>T
XM_011527384.2:c.3326-958C>T	XP_011525686.1:n.3326-958C>T
XM_011527385.2:c.3320-958C>T	XP_011525687.1:n.3320-958C>T
XM_011527386.2:c.3194-958C>T	XP_011525688.1:n.3194-958C>T
XM_017027352.1:c.3565C>T	XP_016882841.1:p.Gln1189Ter
XM_017027353.1:c.3439C>T	XP_016882842.1:p.Gln1147Ter
XM_017027354.1:c.3200-958C>T	XP_016882843.1:n.3200-958C>T
NM_001042545.2:c.3463C>T MANE Select	NP_001036010.1:p.Gln1155Ter