Canonical Allele Identifier: CA10610134

Gene: LBR

Linked Data

• ClinVar Variation Id: 295921
• ClinVar RCV Id: RCV000273778
• dbSNP Id: rs536222809
• gnomAD v2: 1-225589877-C-T
• gnomAD v3: 1-225402175-C-T
• gnomAD v4: 1-225402175-C-T
• MyVariant Identifiers: chr1:g.225589877C>T (hg19) ; chr1:g.225402175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225402175C>T , CM000663.2:g.225402175C>T	GRCh38
NC_000001.10:g.225589877C>T , CM000663.1:g.225589877C>T	GRCh37
NC_000001.9:g.223656500C>T	NCBI36
NG_008099.1:g.31643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272163.9:c.*1128G>A MANE Select	ENSP00000272163.4:n.*1128G>A
ENST00000651341.1:c.*1114-447G>A	ENSP00000499114.1:n.*1114-447G>A
ENST00000272163.8:c.*1128G>A	ENSP00000272163.4:n.*1128G>A
ENST00000338179.6:c.*1128G>A	ENSP00000339883.2:n.*1128G>A
NM_002296.3:c.*1128G>A	NP_002287.2:n.*1128G>A
NM_194442.2:c.*1128G>A	NP_919424.1:n.*1128G>A
XM_005273125.2:c.*1128G>A	XP_005273182.1:n.*1128G>A
XM_011544185.1:c.*1128G>A	XP_011542487.1:n.*1128G>A
XM_011544186.1:c.*1128G>A	XP_011542488.1:n.*1128G>A
XM_005273125.3:c.*1128G>A	XP_005273182.1:n.*1128G>A
XM_011544185.3:c.*1128G>A	XP_011542487.1:n.*1128G>A
XR_001737168.2:n.2999G>A
NM_002296.4:c.*1128G>A MANE Select	NP_002287.2:n.*1128G>A
NM_194442.3:c.*1128G>A	NP_919424.1:n.*1128G>A