Canonical Allele Identifier: CA393107003
Gene: LOXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73946425A>C , CM000677.2:g.73946425A>C GRCh38
NC_000015.9:g.74238766A>C , CM000677.1:g.74238766A>C GRCh37
NC_000015.8:g.72025819A>C NCBI36
NG_011466.1:g.24978A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1220A>C MANE Select ENSP00000261921.7:p.Tyr407Ser
ENST00000261921.7:c.1220A>C ENSP00000261921.7:p.Tyr407Ser
ENST00000566011.5:c.*108A>C ENSP00000457827.1:n.*108A>C
ENST00000566530.1:n.58A>C
NM_005576.2:c.1220A>C NP_005567.2:p.Tyr407Ser
XR_931824.1:n.1737A>C
NM_005576.3:c.1220A>C NP_005567.2:p.Tyr407Ser
XM_017022179.1:c.173A>C XP_016877668.1:p.Tyr58Ser
XR_931824.2:n.1726A>C
NM_005576.4:c.1220A>C MANE Select NP_005567.2:p.Tyr407Ser