Canonical Allele Identifier: CA393104923

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs1295083917
• gnomAD v2: 15-74220101-C-A
• gnomAD v3: 15-73927760-C-A
• gnomAD v4: 15-73927760-C-A
• MyVariant Identifiers: chr15:g.74220101C>A (hg19) ; chr15:g.73927760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927760C>A , CM000677.2:g.73927760C>A	GRCh38
NC_000015.9:g.74220101C>A , CM000677.1:g.74220101C>A	GRCh37
NC_000015.8:g.72007154C>A	NCBI36
NG_011466.1:g.6313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.977C>A (LOXL1) MANE Select	ENSP00000261921.7:p.Ala326Glu
ENST00000261921.7:c.977C>A (LOXL1)	ENSP00000261921.7:p.Ala326Glu
ENST00000566011.5:c.977C>A (LOXL1)	ENSP00000457827.1:p.Ala326Glu
NM_005576.2:c.977C>A (LOXL1)	NP_005567.2:p.Ala326Glu
NR_040066.1:n.27G>T (LOXL1-AS1)
NR_040067.1:n.27G>T (LOXL1-AS1)
NR_040068.1:n.184+305G>T (LOXL1-AS1)
NR_040069.1:n.184+305G>T (LOXL1-AS1)
NR_040070.1:n.184+17G>T (LOXL1-AS1)
XM_011521555.1:c.977C>A (LOXL1)	XP_011519857.1:p.Ala326Glu
XR_931824.1:n.1310C>A (LOXL1)
NM_005576.3:c.977C>A (LOXL1)	NP_005567.2:p.Ala326Glu
XM_011521555.2:c.977C>A (LOXL1)	XP_011519857.1:p.Ala326Glu
XR_931824.2:n.1299C>A (LOXL1)
NM_005576.4:c.977C>A (LOXL1) MANE Select	NP_005567.2:p.Ala326Glu