Canonical Allele Identifier: CA10609240

Gene: LBR

Linked Data

• ClinVar Variation Id: 295926
• ClinVar RCV Id: RCV000382391
• dbSNP Id: rs886046050
• MyVariant Identifiers: chr1:g.225590381A>T (hg19) ; chr1:g.225402679A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225402679A>T , CM000663.2:g.225402679A>T	GRCh38
NC_000001.10:g.225590381A>T , CM000663.1:g.225590381A>T	GRCh37
NC_000001.9:g.223657004A>T	NCBI36
NG_008099.1:g.31139T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272163.9:c.*624T>A MANE Select	ENSP00000272163.4:n.*624T>A
ENST00000651341.1:c.*1113+525T>A	ENSP00000499114.1:n.*1113+525T>A
ENST00000272163.8:c.*624T>A	ENSP00000272163.4:n.*624T>A
ENST00000338179.6:c.*624T>A	ENSP00000339883.2:n.*624T>A
NM_002296.3:c.*624T>A	NP_002287.2:n.*624T>A
NM_194442.2:c.*624T>A	NP_919424.1:n.*624T>A
XM_005273125.2:c.*624T>A	XP_005273182.1:n.*624T>A
XM_011544185.1:c.*624T>A	XP_011542487.1:n.*624T>A
XM_011544186.1:c.*624T>A	XP_011542488.1:n.*624T>A
XM_005273125.3:c.*624T>A	XP_005273182.1:n.*624T>A
XM_011544185.3:c.*624T>A	XP_011542487.1:n.*624T>A
XR_001737168.2:n.2495T>A
NM_002296.4:c.*624T>A MANE Select	NP_002287.2:n.*624T>A
NM_194442.3:c.*624T>A	NP_919424.1:n.*624T>A