Canonical Allele Identifier: CA272712899

Gene: LOXL1

Linked Data

• dbSNP Id: rs137875126
• gnomAD v2: 15-74222372-A-G
• gnomAD v3: 15-73930031-A-G
• gnomAD v4: 15-73930031-A-G
• MyVariant Identifiers: chr15:g.74222372A>G (hg19) ; chr15:g.73930031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930031A>G , CM000677.2:g.73930031A>G	GRCh38
NC_000015.9:g.74222372A>G , CM000677.1:g.74222372A>G	GRCh37
NC_000015.8:g.72009425A>G	NCBI36
NG_011466.1:g.8584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1102+2146A>G MANE Select	ENSP00000261921.7:n.1102+2146A>G
ENST00000261921.7:c.1102+2146A>G	ENSP00000261921.7:n.1102+2146A>G
ENST00000566011.5:c.1102+2146A>G	ENSP00000457827.1:n.1102+2146A>G
NM_005576.2:c.1102+2146A>G	NP_005567.2:n.1102+2146A>G
XM_011521555.1:c.1102+2146A>G	XP_011519857.1:n.1102+2146A>G
XR_931824.1:n.1435+2146A>G
NM_005576.3:c.1102+2146A>G	NP_005567.2:n.1102+2146A>G
XM_011521555.2:c.1102+2146A>G	XP_011519857.1:n.1102+2146A>G
XR_931824.2:n.1424+2146A>G
NM_005576.4:c.1102+2146A>G MANE Select	NP_005567.2:n.1102+2146A>G