Canonical Allele Identifier: CA393104922

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs1181869389
• gnomAD v4: 15-73927759-G-A
• MyVariant Identifiers: chr15:g.74220100G>A (hg19) ; chr15:g.73927759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927759G>A , CM000677.2:g.73927759G>A	GRCh38
NC_000015.9:g.74220100G>A , CM000677.1:g.74220100G>A	GRCh37
NC_000015.8:g.72007153G>A	NCBI36
NG_011466.1:g.6312G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.976G>A (LOXL1) MANE Select	ENSP00000261921.7:p.Ala326Thr
ENST00000261921.7:c.976G>A (LOXL1)	ENSP00000261921.7:p.Ala326Thr
ENST00000566011.5:c.976G>A (LOXL1)	ENSP00000457827.1:p.Ala326Thr
NM_005576.2:c.976G>A (LOXL1)	NP_005567.2:p.Ala326Thr
NR_040066.1:n.28C>T (LOXL1-AS1)
NR_040067.1:n.28C>T (LOXL1-AS1)
NR_040068.1:n.184+306C>T (LOXL1-AS1)
NR_040069.1:n.184+306C>T (LOXL1-AS1)
NR_040070.1:n.184+18C>T (LOXL1-AS1)
XM_011521555.1:c.976G>A (LOXL1)	XP_011519857.1:p.Ala326Thr
XR_931824.1:n.1309G>A (LOXL1)
NM_005576.3:c.976G>A (LOXL1)	NP_005567.2:p.Ala326Thr
XM_011521555.2:c.976G>A (LOXL1)	XP_011519857.1:p.Ala326Thr
XR_931824.2:n.1298G>A (LOXL1)
NM_005576.4:c.976G>A (LOXL1) MANE Select	NP_005567.2:p.Ala326Thr