Canonical Allele Identifier: CA971456508
Gene: LOXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2068624761
gnomAD v3: 15-73930000-G-A
gnomAD v4: 15-73930000-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73930000G>A , CM000677.2:g.73930000G>A GRCh38
NC_000015.9:g.74222341G>A , CM000677.1:g.74222341G>A GRCh37
NC_000015.8:g.72009394G>A NCBI36
NG_011466.1:g.8553G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1102+2115G>A MANE Select ENSP00000261921.7:n.1102+2115G>A
ENST00000261921.7:c.1102+2115G>A ENSP00000261921.7:n.1102+2115G>A
ENST00000566011.5:c.1102+2115G>A ENSP00000457827.1:n.1102+2115G>A
NM_005576.2:c.1102+2115G>A NP_005567.2:n.1102+2115G>A
XM_011521555.1:c.1102+2115G>A XP_011519857.1:n.1102+2115G>A
XR_931824.1:n.1435+2115G>A
NM_005576.3:c.1102+2115G>A NP_005567.2:n.1102+2115G>A
XM_011521555.2:c.1102+2115G>A XP_011519857.1:n.1102+2115G>A
XR_931824.2:n.1424+2115G>A
NM_005576.4:c.1102+2115G>A MANE Select NP_005567.2:n.1102+2115G>A
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