Canonical Allele Identifier: CA393104797

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs961081955
• gnomAD v2: 15-74220038-C-A
• gnomAD v4: 15-73927697-C-A
• MyVariant Identifiers: chr15:g.74220038C>A (hg19) ; chr15:g.73927697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927697C>A , CM000677.2:g.73927697C>A	GRCh38
NC_000015.9:g.74220038C>A , CM000677.1:g.74220038C>A	GRCh37
NC_000015.8:g.72007091C>A	NCBI36
NG_011466.1:g.6250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.914C>A (LOXL1) MANE Select	ENSP00000261921.7:p.Pro305Gln
ENST00000261921.7:c.914C>A (LOXL1)	ENSP00000261921.7:p.Pro305Gln
ENST00000566011.5:c.914C>A (LOXL1)	ENSP00000457827.1:p.Pro305Gln
NM_005576.2:c.914C>A (LOXL1)	NP_005567.2:p.Pro305Gln
NR_040066.1:n.90G>T (LOXL1-AS1)
NR_040067.1:n.90G>T (LOXL1-AS1)
NR_040068.1:n.184+368G>T (LOXL1-AS1)
NR_040069.1:n.184+368G>T (LOXL1-AS1)
NR_040070.1:n.184+80G>T (LOXL1-AS1)
XM_011521555.1:c.914C>A (LOXL1)	XP_011519857.1:p.Pro305Gln
XR_931824.1:n.1247C>A (LOXL1)
NM_005576.3:c.914C>A (LOXL1)	NP_005567.2:p.Pro305Gln
XM_011521555.2:c.914C>A (LOXL1)	XP_011519857.1:p.Pro305Gln
XR_931824.2:n.1236C>A (LOXL1)
NM_005576.4:c.914C>A (LOXL1) MANE Select	NP_005567.2:p.Pro305Gln