Canonical Allele Identifier: CA393104877

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs1171593029
• gnomAD v2: 15-74220077-C-G
• gnomAD v4: 15-73927736-C-G
• MyVariant Identifiers: chr15:g.74220077C>G (hg19) ; chr15:g.73927736C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927736C>G , CM000677.2:g.73927736C>G	GRCh38
NC_000015.9:g.74220077C>G , CM000677.1:g.74220077C>G	GRCh37
NC_000015.8:g.72007130C>G	NCBI36
NG_011466.1:g.6289C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.953C>G (LOXL1) MANE Select	ENSP00000261921.7:p.Pro318Arg
ENST00000261921.7:c.953C>G (LOXL1)	ENSP00000261921.7:p.Pro318Arg
ENST00000566011.5:c.953C>G (LOXL1)	ENSP00000457827.1:p.Pro318Arg
NM_005576.2:c.953C>G (LOXL1)	NP_005567.2:p.Pro318Arg
NR_040066.1:n.51G>C (LOXL1-AS1)
NR_040067.1:n.51G>C (LOXL1-AS1)
NR_040068.1:n.184+329G>C (LOXL1-AS1)
NR_040069.1:n.184+329G>C (LOXL1-AS1)
NR_040070.1:n.184+41G>C (LOXL1-AS1)
XM_011521555.1:c.953C>G (LOXL1)	XP_011519857.1:p.Pro318Arg
XR_931824.1:n.1286C>G (LOXL1)
NM_005576.3:c.953C>G (LOXL1)	NP_005567.2:p.Pro318Arg
XM_011521555.2:c.953C>G (LOXL1)	XP_011519857.1:p.Pro318Arg
XR_931824.2:n.1275C>G (LOXL1)
NM_005576.4:c.953C>G (LOXL1) MANE Select	NP_005567.2:p.Pro318Arg