Canonical Allele Identifier: CA2187454899

Gene: LOXL1

Linked Data

• dbSNP Id: rs2068624556

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73929981C>T , CM000677.2:g.73929981C>T	GRCh38
NC_000015.9:g.74222322C>T , CM000677.1:g.74222322C>T	GRCh37
NC_000015.8:g.72009375C>T	NCBI36
NG_011466.1:g.8534C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1102+2096C>T MANE Select	ENSP00000261921.7:n.1102+2096C>T
ENST00000261921.7:c.1102+2096C>T	ENSP00000261921.7:n.1102+2096C>T
ENST00000566011.5:c.1102+2096C>T	ENSP00000457827.1:n.1102+2096C>T
NM_005576.2:c.1102+2096C>T	NP_005567.2:n.1102+2096C>T
XM_011521555.1:c.1102+2096C>T	XP_011519857.1:n.1102+2096C>T
XR_931824.1:n.1435+2096C>T
NM_005576.3:c.1102+2096C>T	NP_005567.2:n.1102+2096C>T
XM_011521555.2:c.1102+2096C>T	XP_011519857.1:n.1102+2096C>T
XR_931824.2:n.1424+2096C>T
NM_005576.4:c.1102+2096C>T MANE Select	NP_005567.2:n.1102+2096C>T