Canonical Allele Identifier: CA1417117

Gene: LBR

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225404655C>T , CM000663.2:g.225404655C>T	GRCh38
NC_000001.10:g.225592357C>T , CM000663.1:g.225592357C>T	GRCh37
NC_000001.9:g.223658980C>T	NCBI36
NG_008099.1:g.29163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272163.9:c.1535G>A MANE Select	ENSP00000272163.4:p.Arg512Gln
ENST00000651341.1:c.*701G>A	ENSP00000499114.1:n.*701G>A
ENST00000272163.8:c.1535G>A	ENSP00000272163.4:p.Arg512Gln
ENST00000338179.6:c.1535G>A	ENSP00000339883.2:p.Arg512Gln
NM_002296.3:c.1535G>A	NP_002287.2:p.Arg512Gln
NM_194442.2:c.1535G>A	NP_919424.1:p.Arg512Gln
XM_005273125.2:c.1409G>A	XP_005273182.1:p.Arg470Gln
XM_011544185.1:c.1535G>A	XP_011542487.1:p.Arg512Gln
XM_011544186.1:c.1484-129G>A	XP_011542488.1:n.1484-129G>A
XM_005273125.3:c.1409G>A	XP_005273182.1:p.Arg470Gln
XM_011544185.3:c.1535G>A	XP_011542487.1:p.Arg512Gln
XR_001737168.2:n.1558G>A
NM_002296.4:c.1535G>A MANE Select	NP_002287.2:p.Arg512Gln
NM_194442.3:c.1535G>A	NP_919424.1:p.Arg512Gln