Canonical Allele Identifier: CA2575785614
Gene: LOXL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73946336G>A , CM000677.2:g.73946336G>A GRCh38
NC_000015.9:g.74238677G>A , CM000677.1:g.74238677G>A GRCh37
NC_000015.8:g.72025730G>A NCBI36
NG_011466.1:g.24889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1212-81G>A MANE Select ENSP00000261921.7:n.1212-81G>A
ENST00000261921.7:c.1212-81G>A ENSP00000261921.7:n.1212-81G>A
ENST00000566011.5:c.*100-81G>A ENSP00000457827.1:n.*100-81G>A
NM_005576.2:c.1212-81G>A NP_005567.2:n.1212-81G>A
XR_931824.1:n.1729-81G>A
NM_005576.3:c.1212-81G>A NP_005567.2:n.1212-81G>A
XM_017022179.1:c.165-81G>A XP_016877668.1:n.165-81G>A
XR_931824.2:n.1718-81G>A
NM_005576.4:c.1212-81G>A MANE Select NP_005567.2:n.1212-81G>A
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