Canonical Allele Identifier: CA123895
Gene: LOXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14360
ClinVar RCV Id: RCV000015434
dbSNP Id: rs1048661

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 MANE Select ENSP00000261921.7:p.Arg141Leu
ENST00000261921.7:c.422G>T ENSP00000261921.7:p.Arg141Leu
ENST00000566011.5:c.422G>T ENSP00000457827.1:p.Arg141Leu
NM_005576.2:c.422G>T NP_005567.2:p.Arg141Leu
XM_011521555.1:c.422G>T XP_011519857.1:p.Arg141Leu
NM_005576.3:c.422G>T NP_005567.2:p.Arg141Leu
XM_011521555.2:c.422G>T XP_011519857.1:p.Arg141Leu
NM_005576.4:c.422G>T MANE Select NP_005567.2:p.Arg141Leu