Canonical Allele Identifier: CA272722486

Gene: LOXL1

Linked Data

• dbSNP Id: rs948114485
• gnomAD v3: 15-73949239-A-G
• gnomAD v4: 15-73949239-A-G
• MyVariant Identifiers: chr15:g.74241580A>G (hg19) ; chr15:g.73949239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949239A>G , CM000677.2:g.73949239A>G	GRCh38
NC_000015.9:g.74241580A>G , CM000677.1:g.74241580A>G	GRCh37
NC_000015.8:g.72028633A>G	NCBI36
NG_011466.1:g.27792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-220A>G MANE Select	ENSP00000261921.7:n.1603-220A>G
ENST00000261921.7:c.1603-220A>G	ENSP00000261921.7:n.1603-220A>G
ENST00000562548.1:n.688-220A>G
ENST00000566011.5:c.*491-220A>G	ENSP00000457827.1:n.*491-220A>G
ENST00000566530.1:n.441-220A>G
ENST00000567675.1:n.76-220A>G
NM_005576.2:c.1603-220A>G	NP_005567.2:n.1603-220A>G
XR_931824.1:n.2120-220A>G
NM_005576.3:c.1603-220A>G	NP_005567.2:n.1603-220A>G
XM_017022179.1:c.556-220A>G	XP_016877668.1:n.556-220A>G
XR_931824.2:n.2109-220A>G
NM_005576.4:c.1603-220A>G MANE Select	NP_005567.2:n.1603-220A>G