Canonical Allele Identifier: CA11224382

Gene: LTBP1

Linked Data

• dbSNP Id: rs542631
• gnomAD v2: 2-33301947-T-G
• gnomAD v3: 2-33076880-T-G
• gnomAD v4: 2-33076880-T-G
• MyVariant Identifiers: chr2:g.33301947T>G (hg19) ; chr2:g.33076880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.33076880T>G , CM000664.2:g.33076880T>G	GRCh38
NC_000002.11:g.33301947T>G , CM000664.1:g.33301947T>G	GRCh37
NC_000002.10:g.33155451T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404816.7:c.864-33702T>G MANE Select	ENSP00000386043.2:n.864-33702T>G
ENST00000404816.6:c.864-33702T>G	ENSP00000386043.2:n.864-33702T>G
NM_206943.2:c.864-33702T>G	NP_996826.2:n.864-33702T>G
XM_005264317.2:c.864-33702T>G	XP_005264374.1:n.864-33702T>G
XM_005264318.2:c.864-33702T>G	XP_005264375.1:n.864-33702T>G
XM_011532853.1:c.864-33702T>G	XP_011531155.1:n.864-33702T>G
XM_011532854.1:c.864-33702T>G	XP_011531156.1:n.864-33702T>G
XM_011532855.1:c.864-33702T>G	XP_011531157.1:n.864-33702T>G
XM_011532856.1:c.864-33702T>G	XP_011531158.1:n.864-33702T>G
XM_011532857.1:c.864-33702T>G	XP_011531159.1:n.864-33702T>G
XM_011532858.1:c.864-33702T>G	XP_011531160.1:n.864-33702T>G
XM_011532859.1:c.864-33702T>G	XP_011531161.1:n.864-33702T>G
XM_011532860.1:c.864-33702T>G	XP_011531162.1:n.864-33702T>G
XM_011532861.1:c.864-33702T>G	XP_011531163.1:n.864-33702T>G
XM_011532862.1:c.864-33702T>G	XP_011531164.1:n.864-33702T>G
XM_005264317.3:c.864-33702T>G	XP_005264374.1:n.864-33702T>G
XM_005264318.3:c.864-33702T>G	XP_005264375.1:n.864-33702T>G
XM_011532853.2:c.864-33702T>G	XP_011531155.1:n.864-33702T>G
XM_011532855.2:c.864-33702T>G	XP_011531157.1:n.864-33702T>G
XM_011532856.2:c.864-33702T>G	XP_011531158.1:n.864-33702T>G
XM_011532857.2:c.864-33702T>G	XP_011531159.1:n.864-33702T>G
XM_011532858.2:c.864-33702T>G	XP_011531160.1:n.864-33702T>G
XM_011532859.2:c.864-33702T>G	XP_011531161.1:n.864-33702T>G
XM_011532860.2:c.864-33702T>G	XP_011531162.1:n.864-33702T>G
XM_011532861.2:c.864-33702T>G	XP_011531163.1:n.864-33702T>G
XM_011532862.2:c.864-33702T>G	XP_011531164.1:n.864-33702T>G
XM_017004108.1:c.864-33702T>G	XP_016859597.1:n.864-33702T>G
XM_017004109.1:c.864-33702T>G	XP_016859598.1:n.864-33702T>G
XM_017004110.1:c.864-33702T>G	XP_016859599.1:n.864-33702T>G
XM_024452888.1:c.267-33702T>G	XP_024308656.1:n.267-33702T>G
XM_024452889.1:c.267-33702T>G	XP_024308657.1:n.267-33702T>G
NM_206943.3:c.864-33702T>G	NP_996826.2:n.864-33702T>G
NM_206943.4:c.864-33702T>G MANE Select	NP_996826.3:n.864-33702T>G
NM_001394905.1:c.864-33702T>G	NP_001381834.1:n.864-33702T>G