Canonical Allele Identifier: CA344992628

Gene: LBR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225403404G>C , CM000663.2:g.225403404G>C	GRCh38
NC_000001.10:g.225591106G>C , CM000663.1:g.225591106G>C	GRCh37
NC_000001.9:g.223657729G>C	NCBI36
NG_008099.1:g.30414C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002296.4:c.1747C>G MANE Select	NP_002287.2:p.Arg583Gly
ENST00000272163.9:c.1747C>G MANE Select	ENSP00000272163.4:p.Arg583Gly
NM_002296.3:c.1747C>G	NP_002287.2:p.Arg583Gly
NM_194442.2:c.1747C>G	NP_919424.1:p.Arg583Gly
NM_194442.3:c.1747C>G	NP_919424.1:p.Arg583Gly
ENST00000272163.8:c.1747C>G	ENSP00000272163.4:p.Arg583Gly
ENST00000338179.6:c.1747C>G	ENSP00000339883.2:p.Arg583Gly
ENST00000441022.1:n.222C>G
ENST00000651341.1:c.*913C>G	ENSP00000499114.1:n.*913C>G
XM_005273125.2:c.1621C>G	XP_005273182.1:p.Arg541Gly
XM_005273125.3:c.1621C>G	XP_005273182.1:p.Arg541Gly
XM_011544185.1:c.1747C>G	XP_011542487.1:p.Arg583Gly
XM_011544185.3:c.1747C>G	XP_011542487.1:p.Arg583Gly
XM_011544186.1:c.1666C>G	XP_011542488.1:p.Arg556Gly
XR_001737168.2:n.1770C>G