Canonical Allele Identifier: CA971450668

Gene: LOXL1

Linked Data

• dbSNP Id: rs2068767484
• gnomAD v3: 15-73949189-C-G
• gnomAD v4: 15-73949189-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949189C>G , CM000677.2:g.73949189C>G	GRCh38
NC_000015.9:g.74241530C>G , CM000677.1:g.74241530C>G	GRCh37
NC_000015.8:g.72028583C>G	NCBI36
NG_011466.1:g.27742C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-270C>G MANE Select	ENSP00000261921.7:n.1603-270C>G
ENST00000261921.7:c.1603-270C>G	ENSP00000261921.7:n.1603-270C>G
ENST00000562548.1:n.688-270C>G
ENST00000566011.5:c.*491-270C>G	ENSP00000457827.1:n.*491-270C>G
ENST00000566530.1:n.441-270C>G
ENST00000567675.1:n.76-270C>G
NM_005576.2:c.1603-270C>G	NP_005567.2:n.1603-270C>G
XR_931824.1:n.2120-270C>G
NM_005576.3:c.1603-270C>G	NP_005567.2:n.1603-270C>G
XM_017022179.1:c.556-270C>G	XP_016877668.1:n.556-270C>G
XR_931824.2:n.2109-270C>G
NM_005576.4:c.1603-270C>G MANE Select	NP_005567.2:n.1603-270C>G