Canonical Allele Identifier: CA2187466154
Gene: LOXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2068767462

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73949188C>T , CM000677.2:g.73949188C>T GRCh38
NC_000015.9:g.74241529C>T , CM000677.1:g.74241529C>T GRCh37
NC_000015.8:g.72028582C>T NCBI36
NG_011466.1:g.27741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.1603-271C>T MANE Select ENSP00000261921.7:n.1603-271C>T
ENST00000261921.7:c.1603-271C>T ENSP00000261921.7:n.1603-271C>T
ENST00000562548.1:n.688-271C>T
ENST00000566011.5:c.*491-271C>T ENSP00000457827.1:n.*491-271C>T
ENST00000566530.1:n.441-271C>T
ENST00000567675.1:n.76-271C>T
NM_005576.2:c.1603-271C>T NP_005567.2:n.1603-271C>T
XR_931824.1:n.2120-271C>T
NM_005576.3:c.1603-271C>T NP_005567.2:n.1603-271C>T
XM_017022179.1:c.556-271C>T XP_016877668.1:n.556-271C>T
XR_931824.2:n.2109-271C>T
NM_005576.4:c.1603-271C>T MANE Select NP_005567.2:n.1603-271C>T