Canonical Allele Identifier: CA1728826

Gene: LOXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74534714C>T , CM000664.2:g.74534714C>T	GRCh38
NC_000002.11:g.74761841C>T , CM000664.1:g.74761841C>T	GRCh37
NC_000002.10:g.74615349C>T	NCBI36
NG_012163.1:g.10310C>T
NG_033037.1:g.134G>A
NG_033047.1:g.24222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264094.8:c.1640G>A MANE Select	ENSP00000264094.3:p.Arg547Gln
ENST00000264094.7:c.1640G>A	ENSP00000264094.3:p.Arg547Gln
ENST00000393937.6:c.1205G>A	ENSP00000377512.2:p.Arg402Gln
ENST00000409249.5:c.1094-478G>A	ENSP00000387103.1:n.1094-478G>A
ENST00000409549.5:c.1472G>A	ENSP00000386696.1:p.Arg491Gln
ENST00000409986.5:c.1205G>A	ENSP00000386545.1:p.Arg402Gln
ENST00000470907.6:n.1023G>A
NM_001289164.1:c.1205G>A	NP_001276093.1:p.Arg402Gln
NM_001289165.1:c.557G>A	NP_001276094.1:p.Arg186Gln
NM_032603.3:c.1640G>A	NP_115992.1:p.Arg547Gln
XM_011533134.1:c.1640G>A	XP_011531436.1:p.Arg547Gln
NM_001289164.2:c.1205G>A	NP_001276093.1:p.Arg402Gln
NM_032603.4:c.1640G>A	NP_115992.1:p.Arg547Gln
XM_011533134.2:c.1640G>A	XP_011531436.1:p.Arg547Gln
XM_017005112.1:c.557G>A	XP_016860601.1:p.Arg186Gln
XM_024453176.1:c.1640G>A	XP_024308944.1:p.Arg547Gln
XM_024453177.1:c.1640G>A	XP_024308945.1:p.Arg547Gln
XM_024453178.1:c.1640G>A	XP_024308946.1:p.Arg547Gln
NM_032603.5:c.1640G>A MANE Select	NP_115992.1:p.Arg547Gln
NM_001289164.3:c.1205G>A	NP_001276093.1:p.Arg402Gln
NM_001289165.2:c.557G>A	NP_001276094.1:p.Arg186Gln