Canonical Allele Identifier: CA715623986

Gene: LOXL1

Linked Data

• dbSNP Id: rs1247780856
• gnomAD v3: 15-73949078-G-A
• gnomAD v4: 15-73949078-G-A
• MyVariant Identifiers: chr15:g.74241419G>A (hg19) ; chr15:g.73949078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949078G>A , CM000677.2:g.73949078G>A	GRCh38
NC_000015.9:g.74241419G>A , CM000677.1:g.74241419G>A	GRCh37
NC_000015.8:g.72028472G>A	NCBI36
NG_011466.1:g.27631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-381G>A MANE Select	ENSP00000261921.7:n.1603-381G>A
ENST00000261921.7:c.1603-381G>A	ENSP00000261921.7:n.1603-381G>A
ENST00000562548.1:n.688-381G>A
ENST00000566011.5:c.*491-381G>A	ENSP00000457827.1:n.*491-381G>A
ENST00000566530.1:n.441-381G>A
ENST00000567675.1:n.76-381G>A
NM_005576.2:c.1603-381G>A	NP_005567.2:n.1603-381G>A
XR_931824.1:n.2120-381G>A
NM_005576.3:c.1603-381G>A	NP_005567.2:n.1603-381G>A
XM_017022179.1:c.556-381G>A	XP_016877668.1:n.556-381G>A
XR_931824.2:n.2109-381G>A
NM_005576.4:c.1603-381G>A MANE Select	NP_005567.2:n.1603-381G>A