Canonical Allele Identifier: CA123897

Gene: LOXL1 LOXL1-AS1

Linked Data

• ClinVar Variation Id: 14361
• ClinVar RCV Id: RCV000015435 ; RCV003974828
• dbSNP Id: rs3825942
• ExAC: 15:74219582 G / A
• gnomAD v2: 15-74219582-G-A
• gnomAD v3: 15-73927241-G-A
• gnomAD v4: 15-73927241-G-A
• MyVariant Identifiers: chr15:g.74219582G>A (hg19) ; chr15:g.73927241G>A (hg38)
• PubMed: PMID:17690259 ; PMID:18037624 ; PMID:19343041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927241G>A , CM000677.2:g.73927241G>A	GRCh38
NC_000015.9:g.74219582G>A , CM000677.1:g.74219582G>A	GRCh37
NC_000015.8:g.72006635G>A	NCBI36
NG_011466.1:g.5794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.458G>A (LOXL1) MANE Select	ENSP00000261921.7:p.Gly153Asp
ENST00000261921.7:c.458G>A (LOXL1)	ENSP00000261921.7:p.Gly153Asp
ENST00000566011.5:c.458G>A (LOXL1)	ENSP00000457827.1:p.Gly153Asp
NM_005576.2:c.458G>A (LOXL1)	NP_005567.2:p.Gly153Asp
NR_040066.1:n.133+413C>T (LOXL1-AS1)
NR_040067.1:n.133+413C>T (LOXL1-AS1)
NR_040068.1:n.184+824C>T (LOXL1-AS1)
NR_040069.1:n.184+824C>T (LOXL1-AS1)
NR_040070.1:n.184+536C>T (LOXL1-AS1)
XM_011521555.1:c.458G>A (LOXL1)	XP_011519857.1:p.Gly153Asp
XR_931824.1:n.791G>A (LOXL1)
NM_005576.3:c.458G>A (LOXL1)	NP_005567.2:p.Gly153Asp
XM_011521555.2:c.458G>A (LOXL1)	XP_011519857.1:p.Gly153Asp
XR_931824.2:n.780G>A (LOXL1)
NM_005576.4:c.458G>A (LOXL1) MANE Select	NP_005567.2:p.Gly153Asp