Canonical Allele Identifier: CA393103549

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs2068586034
• gnomAD v3: 15-73927106-C-G
• gnomAD v4: 15-73927106-C-G
• MyVariant Identifiers: chr15:g.74219447C>G (hg19) ; chr15:g.73927106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927106C>G , CM000677.2:g.73927106C>G	GRCh38
NC_000015.9:g.74219447C>G , CM000677.1:g.74219447C>G	GRCh37
NC_000015.8:g.72006500C>G	NCBI36
NG_011466.1:g.5659C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.323C>G (LOXL1) MANE Select	ENSP00000261921.7:p.Ser108Trp
ENST00000261921.7:c.323C>G (LOXL1)	ENSP00000261921.7:p.Ser108Trp
ENST00000566011.5:c.323C>G (LOXL1)	ENSP00000457827.1:p.Ser108Trp
NM_005576.2:c.323C>G (LOXL1)	NP_005567.2:p.Ser108Trp
NR_040066.1:n.133+548G>C (LOXL1-AS1)
NR_040067.1:n.133+548G>C (LOXL1-AS1)
NR_040068.1:n.184+959G>C (LOXL1-AS1)
NR_040069.1:n.184+959G>C (LOXL1-AS1)
NR_040070.1:n.184+671G>C (LOXL1-AS1)
XM_011521555.1:c.323C>G (LOXL1)	XP_011519857.1:p.Ser108Trp
XR_931824.1:n.656C>G (LOXL1)
NM_005576.3:c.323C>G (LOXL1)	NP_005567.2:p.Ser108Trp
XM_011521555.2:c.323C>G (LOXL1)	XP_011519857.1:p.Ser108Trp
XR_931824.2:n.645C>G (LOXL1)
NM_005576.4:c.323C>G (LOXL1) MANE Select	NP_005567.2:p.Ser108Trp