Canonical Allele Identifier: CA272712915
Gene: LOXL1 HGNC NCBI

Linked Data

dbSNP Id: rs972130937

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73930076C>T , CM000677.2:g.73930076C>T GRCh38
NC_000015.9:g.74222417C>T , CM000677.1:g.74222417C>T GRCh37
NC_000015.8:g.72009470C>T NCBI36
NG_011466.1:g.8629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.1102+2191C>T MANE Select ENSP00000261921.7:n.1102+2191C>T
ENST00000261921.7:c.1102+2191C>T ENSP00000261921.7:n.1102+2191C>T
ENST00000566011.5:c.1102+2191C>T ENSP00000457827.1:n.1102+2191C>T
NM_005576.2:c.1102+2191C>T NP_005567.2:n.1102+2191C>T
XM_011521555.1:c.1102+2191C>T XP_011519857.1:n.1102+2191C>T
XR_931824.1:n.1435+2191C>T
NM_005576.3:c.1102+2191C>T NP_005567.2:n.1102+2191C>T
XM_011521555.2:c.1102+2191C>T XP_011519857.1:n.1102+2191C>T
XR_931824.2:n.1424+2191C>T
NM_005576.4:c.1102+2191C>T MANE Select NP_005567.2:n.1102+2191C>T