Canonical Allele Identifier: CA2509192816
Gene: LOXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73949147T>C , CM000677.2:g.73949147T>C GRCh38
NC_000015.9:g.74241488T>C , CM000677.1:g.74241488T>C GRCh37
NC_000015.8:g.72028541T>C NCBI36
NG_011466.1:g.27700T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261921.8:c.1603-312T>C MANE Select ENSP00000261921.7:n.1603-312T>C
ENST00000261921.7:c.1603-312T>C ENSP00000261921.7:n.1603-312T>C
ENST00000562548.1:n.688-312T>C
ENST00000566011.5:c.*491-312T>C ENSP00000457827.1:n.*491-312T>C
ENST00000566530.1:n.441-312T>C
ENST00000567675.1:n.76-312T>C
NM_005576.2:c.1603-312T>C NP_005567.2:n.1603-312T>C
XR_931824.1:n.2120-312T>C
NM_005576.3:c.1603-312T>C NP_005567.2:n.1603-312T>C
XM_017022179.1:c.556-312T>C XP_016877668.1:n.556-312T>C
XR_931824.2:n.2109-312T>C
NM_005576.4:c.1603-312T>C MANE Select NP_005567.2:n.1603-312T>C