Canonical Allele Identifier: CA393104912

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs2068598877
• gnomAD v4: 15-73927754-C-G
• MyVariant Identifiers: chr15:g.74220095C>G (hg19) ; chr15:g.73927754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927754C>G , CM000677.2:g.73927754C>G	GRCh38
NC_000015.9:g.74220095C>G , CM000677.1:g.74220095C>G	GRCh37
NC_000015.8:g.72007148C>G	NCBI36
NG_011466.1:g.6307C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.971C>G (LOXL1) MANE Select	ENSP00000261921.7:p.Pro324Arg
ENST00000261921.7:c.971C>G (LOXL1)	ENSP00000261921.7:p.Pro324Arg
ENST00000566011.5:c.971C>G (LOXL1)	ENSP00000457827.1:p.Pro324Arg
NM_005576.2:c.971C>G (LOXL1)	NP_005567.2:p.Pro324Arg
NR_040066.1:n.33G>C (LOXL1-AS1)
NR_040067.1:n.33G>C (LOXL1-AS1)
NR_040068.1:n.184+311G>C (LOXL1-AS1)
NR_040069.1:n.184+311G>C (LOXL1-AS1)
NR_040070.1:n.184+23G>C (LOXL1-AS1)
XM_011521555.1:c.971C>G (LOXL1)	XP_011519857.1:p.Pro324Arg
XR_931824.1:n.1304C>G (LOXL1)
NM_005576.3:c.971C>G (LOXL1)	NP_005567.2:p.Pro324Arg
XM_011521555.2:c.971C>G (LOXL1)	XP_011519857.1:p.Pro324Arg
XR_931824.2:n.1293C>G (LOXL1)
NM_005576.4:c.971C>G (LOXL1) MANE Select	NP_005567.2:p.Pro324Arg