Canonical Allele Identifier: CA393107023

Gene: LOXL1

Linked Data

• MyVariant Identifiers: chr15:g.74238776G>C (hg19) ; chr15:g.73946435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73946435G>C , CM000677.2:g.73946435G>C	GRCh38
NC_000015.9:g.74238776G>C , CM000677.1:g.74238776G>C	GRCh37
NC_000015.8:g.72025829G>C	NCBI36
NG_011466.1:g.24988G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1230G>C MANE Select	ENSP00000261921.7:p.Glu410Asp
ENST00000261921.7:c.1230G>C	ENSP00000261921.7:p.Glu410Asp
ENST00000566011.5:c.*118G>C	ENSP00000457827.1:n.*118G>C
ENST00000566530.1:n.68G>C
NM_005576.2:c.1230G>C	NP_005567.2:p.Glu410Asp
XR_931824.1:n.1747G>C
NM_005576.3:c.1230G>C	NP_005567.2:p.Glu410Asp
XM_017022179.1:c.183G>C	XP_016877668.1:p.Glu61Asp
XR_931824.2:n.1736G>C
NM_005576.4:c.1230G>C MANE Select	NP_005567.2:p.Glu410Asp