Canonical Allele Identifier: CA971456500
Gene: LOXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2068624477
gnomAD v3: 15-73929966-G-C
gnomAD v4: 15-73929966-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73929966G>C , CM000677.2:g.73929966G>C GRCh38
NC_000015.9:g.74222307G>C , CM000677.1:g.74222307G>C GRCh37
NC_000015.8:g.72009360G>C NCBI36
NG_011466.1:g.8519G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1102+2081G>C MANE Select ENSP00000261921.7:n.1102+2081G>C
ENST00000261921.7:c.1102+2081G>C ENSP00000261921.7:n.1102+2081G>C
ENST00000566011.5:c.1102+2081G>C ENSP00000457827.1:n.1102+2081G>C
NM_005576.2:c.1102+2081G>C NP_005567.2:n.1102+2081G>C
XM_011521555.1:c.1102+2081G>C XP_011519857.1:n.1102+2081G>C
XR_931824.1:n.1435+2081G>C
NM_005576.3:c.1102+2081G>C NP_005567.2:n.1102+2081G>C
XM_011521555.2:c.1102+2081G>C XP_011519857.1:n.1102+2081G>C
XR_931824.2:n.1424+2081G>C
NM_005576.4:c.1102+2081G>C MANE Select NP_005567.2:n.1102+2081G>C
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