Canonical Allele Identifier: CA123897
Gene: LOXL1 HGNC NCBI
LOXL1-AS1 HGNC NCBI
COSMIC:
COSM3754463 (not active)
MyVariant.info:
GRCh38 chr15:g.73927241G>A
GRCh37 chr15:g.74219582G>A
Revel Score:
ENST00000261921 (MANE Select) 0.141
ENST00000395162 0.141
gnomAD v2:
15:74219582 G / A
gnomAD v3:
15:73927241 G / A
gnomAD v4:
chr15-73927241-G-A
Joint Max Group AF 0.37882652 (AFR)
Genomes Max Group AF 0.37443244 (AFR)
Exomes Max Group AF 0.38097504 (AFR)
ClinVar RCV:
RCV000015435
RCV003974828
ClinVar Variation:
14361
dbSNP:
3825942
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'