Canonical Allele Identifier: CA619092917

Gene: LOXL1

Linked Data

• dbSNP Id: rs1208760060
• gnomAD v2: 15-74229111-G-A
• gnomAD v3: 15-73936770-G-A
• gnomAD v4: 15-73936770-G-A
• MyVariant Identifiers: chr15:g.74229111G>A (hg19) ; chr15:g.73936770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73936770G>A , CM000677.2:g.73936770G>A	GRCh38
NC_000015.9:g.74229111G>A , CM000677.1:g.74229111G>A	GRCh37
NC_000015.8:g.72016164G>A	NCBI36
NG_011466.1:g.15323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1103-6084G>A MANE Select	ENSP00000261921.7:n.1103-6084G>A
ENST00000261921.7:c.1103-6084G>A	ENSP00000261921.7:n.1103-6084G>A
ENST00000566011.5:c.1103-5105G>A	ENSP00000457827.1:n.1103-5105G>A
NM_005576.2:c.1103-6084G>A	NP_005567.2:n.1103-6084G>A
XM_011521555.1:c.1103-5105G>A	XP_011519857.1:n.1103-5105G>A
XR_931824.1:n.1436-5105G>A
NM_005576.3:c.1103-6084G>A	NP_005567.2:n.1103-6084G>A
XM_011521555.2:c.1103-5105G>A	XP_011519857.1:n.1103-5105G>A
XR_931824.2:n.1425-5105G>A
NM_005576.4:c.1103-6084G>A MANE Select	NP_005567.2:n.1103-6084G>A