Canonical Allele Identifier: CA393104738

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs2068597018
• gnomAD v3: 15-73927669-G-A
• gnomAD v4: 15-73927669-G-A
• MyVariant Identifiers: chr15:g.74220010G>A (hg19) ; chr15:g.73927669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927669G>A , CM000677.2:g.73927669G>A	GRCh38
NC_000015.9:g.74220010G>A , CM000677.1:g.74220010G>A	GRCh37
NC_000015.8:g.72007063G>A	NCBI36
NG_011466.1:g.6222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.886G>A (LOXL1) MANE Select	ENSP00000261921.7:p.Glu296Lys
ENST00000261921.7:c.886G>A (LOXL1)	ENSP00000261921.7:p.Glu296Lys
ENST00000566011.5:c.886G>A (LOXL1)	ENSP00000457827.1:p.Glu296Lys
NM_005576.2:c.886G>A (LOXL1)	NP_005567.2:p.Glu296Lys
NR_040066.1:n.118C>T (LOXL1-AS1)
NR_040067.1:n.118C>T (LOXL1-AS1)
NR_040068.1:n.184+396C>T (LOXL1-AS1)
NR_040069.1:n.184+396C>T (LOXL1-AS1)
NR_040070.1:n.184+108C>T (LOXL1-AS1)
XM_011521555.1:c.886G>A (LOXL1)	XP_011519857.1:p.Glu296Lys
XR_931824.1:n.1219G>A (LOXL1)
NM_005576.3:c.886G>A (LOXL1)	NP_005567.2:p.Glu296Lys
XM_011521555.2:c.886G>A (LOXL1)	XP_011519857.1:p.Glu296Lys
XR_931824.2:n.1208G>A (LOXL1)
NM_005576.4:c.886G>A (LOXL1) MANE Select	NP_005567.2:p.Glu296Lys