Canonical Allele Identifier: CA2999353132
Gene: LOXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73929906T>C , CM000677.2:g.73929906T>C GRCh38
NC_000015.9:g.74222247T>C , CM000677.1:g.74222247T>C GRCh37
NC_000015.8:g.72009300T>C NCBI36
NG_011466.1:g.8459T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.1102+2021T>C MANE Select ENSP00000261921.7:n.1102+2021T>C
ENST00000261921.7:c.1102+2021T>C ENSP00000261921.7:n.1102+2021T>C
ENST00000566011.5:c.1102+2021T>C ENSP00000457827.1:n.1102+2021T>C
NM_005576.2:c.1102+2021T>C NP_005567.2:n.1102+2021T>C
XM_011521555.1:c.1102+2021T>C XP_011519857.1:n.1102+2021T>C
XR_931824.1:n.1435+2021T>C
NM_005576.3:c.1102+2021T>C NP_005567.2:n.1102+2021T>C
XM_011521555.2:c.1102+2021T>C XP_011519857.1:n.1102+2021T>C
XR_931824.2:n.1424+2021T>C
NM_005576.4:c.1102+2021T>C MANE Select NP_005567.2:n.1102+2021T>C