Canonical Allele Identifier: CA2187466120

Gene: LOXL1

Linked Data

• dbSNP Id: rs2068767141

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949129G>C , CM000677.2:g.73949129G>C	GRCh38
NC_000015.9:g.74241470G>C , CM000677.1:g.74241470G>C	GRCh37
NC_000015.8:g.72028523G>C	NCBI36
NG_011466.1:g.27682G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1603-330G>C MANE Select	ENSP00000261921.7:n.1603-330G>C
ENST00000261921.7:c.1603-330G>C	ENSP00000261921.7:n.1603-330G>C
ENST00000562548.1:n.688-330G>C
ENST00000566011.5:c.*491-330G>C	ENSP00000457827.1:n.*491-330G>C
ENST00000566530.1:n.441-330G>C
ENST00000567675.1:n.76-330G>C
NM_005576.2:c.1603-330G>C	NP_005567.2:n.1603-330G>C
XR_931824.1:n.2120-330G>C
NM_005576.3:c.1603-330G>C	NP_005567.2:n.1603-330G>C
XM_017022179.1:c.556-330G>C	XP_016877668.1:n.556-330G>C
XR_931824.2:n.2109-330G>C
NM_005576.4:c.1603-330G>C MANE Select	NP_005567.2:n.1603-330G>C