Canonical Allele Identifier: CA1417079

Gene: LBR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225404482A>C , CM000663.2:g.225404482A>C	GRCh38
NC_000001.10:g.225592184A>C , CM000663.1:g.225592184A>C	GRCh37
NC_000001.9:g.223658807A>C	NCBI36
NG_008099.1:g.29336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272163.9:c.1609T>G MANE Select	ENSP00000272163.4:p.Ser537Ala
ENST00000651341.1:c.*775T>G	ENSP00000499114.1:n.*775T>G
ENST00000272163.8:c.1609T>G	ENSP00000272163.4:p.Ser537Ala
ENST00000338179.6:c.1609T>G	ENSP00000339883.2:p.Ser537Ala
ENST00000441022.1:n.84T>G
NM_002296.3:c.1609T>G	NP_002287.2:p.Ser537Ala
NM_194442.2:c.1609T>G	NP_919424.1:p.Ser537Ala
XM_005273125.2:c.1483T>G	XP_005273182.1:p.Ser495Ala
XM_011544185.1:c.1609T>G	XP_011542487.1:p.Ser537Ala
XM_011544186.1:c.1528T>G	XP_011542488.1:p.Ser510Ala
XM_005273125.3:c.1483T>G	XP_005273182.1:p.Ser495Ala
XM_011544185.3:c.1609T>G	XP_011542487.1:p.Ser537Ala
XR_001737168.2:n.1632T>G
NM_002296.4:c.1609T>G MANE Select	NP_002287.2:p.Ser537Ala
NM_194442.3:c.1609T>G	NP_919424.1:p.Ser537Ala