Canonical Allele Identifier: CA123895
Gene: LOXL1 HGNC NCBI
LOXL1-AS1 HGNC NCBI
COSMIC:
COSM3749312 (not active)
MyVariant.info:
GRCh38 chr15:g.73927205G>T
GRCh37 chr15:g.74219546G>T
Revel Score:
ENST00000261921 (MANE Select) 0.080
ENST00000395162 0.080
gnomAD v2:
15:74219546 G / T
gnomAD v3:
15:73927205 G / T
gnomAD v4:
chr15-73927205-G-T
Joint Max Group AF 0.53870898 (EAS)
Genomes Max Group AF 0.52793863 (EAS)
Exomes Max Group AF 0.53830064 (EAS)
ClinVar Allele:
29399
ClinVar RCV:
RCV000015434
ClinVar Variation:
14360
dbSNP:
1048661
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73927205G>T , CM000677.2:g.73927205G>T GRCh38
NC_000015.9:g.74219546G>T , CM000677.1:g.74219546G>T GRCh37
NC_000015.8:g.72006599G>T NCBI36
NG_011466.1:g.5758G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.422G>T (LOXL1) MANE Select ENSP00000261921.7:p.Arg141Leu
ENST00000261921.7:c.422G>T (LOXL1) ENSP00000261921.7:p.Arg141Leu
ENST00000566011.5:c.422G>T (LOXL1) ENSP00000457827.1:p.Arg141Leu
NM_005576.2:c.422G>T (LOXL1) NP_005567.2:p.Arg141Leu
NR_040066.1:n.133+449C>A (LOXL1-AS1)
NR_040067.1:n.133+449C>A (LOXL1-AS1)
NR_040068.1:n.184+860C>A (LOXL1-AS1)
NR_040069.1:n.184+860C>A (LOXL1-AS1)
NR_040070.1:n.184+572C>A (LOXL1-AS1)
XM_011521555.1:c.422G>T (LOXL1) XP_011519857.1:p.Arg141Leu
XR_931824.1:n.755G>T (LOXL1)
NM_005576.3:c.422G>T (LOXL1) NP_005567.2:p.Arg141Leu
XM_011521555.2:c.422G>T (LOXL1) XP_011519857.1:p.Arg141Leu
XR_931824.2:n.744G>T (LOXL1)
NM_005576.4:c.422G>T (LOXL1) MANE Select NP_005567.2:p.Arg141Leu
Search 100 bp 5'
Search 100 bp 3'