Canonical Allele Identifier: CA10654753

Gene: LBR

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002296.4:c.1747C>T MANE Select	NP_002287.2:p.Arg583Ter
ENST00000272163.9:c.1747C>T MANE Select	ENSP00000272163.4:p.Arg583Ter
NM_002296.3:c.1747C>T	NP_002287.2:p.Arg583Ter
NM_194442.2:c.1747C>T	NP_919424.1:p.Arg583Ter
NM_194442.3:c.1747C>T	NP_919424.1:p.Arg583Ter
ENST00000272163.8:c.1747C>T	ENSP00000272163.4:p.Arg583Ter
ENST00000338179.6:c.1747C>T	ENSP00000339883.2:p.Arg583Ter
ENST00000441022.1:n.222C>T
ENST00000651341.1:c.*913C>T	ENSP00000499114.1:n.*913C>T
XM_005273125.2:c.1621C>T	XP_005273182.1:p.Arg541Ter
XM_005273125.3:c.1621C>T	XP_005273182.1:p.Arg541Ter
XM_011544185.1:c.1747C>T	XP_011542487.1:p.Arg583Ter
XM_011544185.3:c.1747C>T	XP_011542487.1:p.Arg583Ter
XM_011544186.1:c.1666C>T	XP_011542488.1:p.Arg556Ter
XR_001737168.2:n.1770C>T