Canonical Allele Identifier: CA1417166

Gene: LBR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225406823A>G , CM000663.2:g.225406823A>G	GRCh38
NC_000001.10:g.225594525A>G , CM000663.1:g.225594525A>G	GRCh37
NC_000001.9:g.223661148A>G	NCBI36
NG_008099.1:g.26995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272163.9:c.1324T>C MANE Select	ENSP00000272163.4:p.Leu442=
ENST00000651341.1:c.*490T>C	ENSP00000499114.1:n.*490T>C
ENST00000272163.8:c.1324T>C	ENSP00000272163.4:p.Leu442=
ENST00000338179.6:c.1324T>C	ENSP00000339883.2:p.Leu442=
ENST00000424022.2:n.217T>C
NM_002296.3:c.1324T>C	NP_002287.2:p.Leu442=
NM_194442.2:c.1324T>C	NP_919424.1:p.Leu442=
XM_005273125.2:c.1198T>C	XP_005273182.1:p.Leu400=
XM_011544185.1:c.1324T>C	XP_011542487.1:p.Leu442=
XM_011544186.1:c.1324T>C	XP_011542488.1:p.Leu442=
XM_005273125.3:c.1198T>C	XP_005273182.1:p.Leu400=
XM_011544185.3:c.1324T>C	XP_011542487.1:p.Leu442=
XR_001737168.2:n.1347T>C
NM_002296.4:c.1324T>C MANE Select	NP_002287.2:p.Leu442=
NM_194442.3:c.1324T>C	NP_919424.1:p.Leu442=