Canonical Allele Identifier: CA971450671

Gene: LOXL1

Linked Data

• dbSNP Id: rs1384334024
• gnomAD v3: 15-73949192-A-C
• gnomAD v4: 15-73949192-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949192A>C , CM000677.2:g.73949192A>C	GRCh38
NC_000015.9:g.74241533A>C , CM000677.1:g.74241533A>C	GRCh37
NC_000015.8:g.72028586A>C	NCBI36
NG_011466.1:g.27745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-267A>C MANE Select	ENSP00000261921.7:n.1603-267A>C
ENST00000261921.7:c.1603-267A>C	ENSP00000261921.7:n.1603-267A>C
ENST00000562548.1:n.688-267A>C
ENST00000566011.5:c.*491-267A>C	ENSP00000457827.1:n.*491-267A>C
ENST00000566530.1:n.441-267A>C
ENST00000567675.1:n.76-267A>C
NM_005576.2:c.1603-267A>C	NP_005567.2:n.1603-267A>C
XR_931824.1:n.2120-267A>C
NM_005576.3:c.1603-267A>C	NP_005567.2:n.1603-267A>C
XM_017022179.1:c.556-267A>C	XP_016877668.1:n.556-267A>C
XR_931824.2:n.2109-267A>C
NM_005576.4:c.1603-267A>C MANE Select	NP_005567.2:n.1603-267A>C