Canonical Allele Identifier: CA393104756

Gene: LOXL1 LOXL1-AS1

Linked Data

• gnomAD v4: 15-73927678-C-A
• COSMIC: COSM6414915
• MyVariant Identifiers: chr15:g.74220019C>A (hg19) ; chr15:g.73927678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927678C>A , CM000677.2:g.73927678C>A	GRCh38
NC_000015.9:g.74220019C>A , CM000677.1:g.74220019C>A	GRCh37
NC_000015.8:g.72007072C>A	NCBI36
NG_011466.1:g.6231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.895C>A (LOXL1) MANE Select	ENSP00000261921.7:p.Gln299Lys
ENST00000261921.7:c.895C>A (LOXL1)	ENSP00000261921.7:p.Gln299Lys
ENST00000566011.5:c.895C>A (LOXL1)	ENSP00000457827.1:p.Gln299Lys
NM_005576.2:c.895C>A (LOXL1)	NP_005567.2:p.Gln299Lys
NR_040066.1:n.109G>T (LOXL1-AS1)
NR_040067.1:n.109G>T (LOXL1-AS1)
NR_040068.1:n.184+387G>T (LOXL1-AS1)
NR_040069.1:n.184+387G>T (LOXL1-AS1)
NR_040070.1:n.184+99G>T (LOXL1-AS1)
XM_011521555.1:c.895C>A (LOXL1)	XP_011519857.1:p.Gln299Lys
XR_931824.1:n.1228C>A (LOXL1)
NM_005576.3:c.895C>A (LOXL1)	NP_005567.2:p.Gln299Lys
XM_011521555.2:c.895C>A (LOXL1)	XP_011519857.1:p.Gln299Lys
XR_931824.2:n.1217C>A (LOXL1)
NM_005576.4:c.895C>A (LOXL1) MANE Select	NP_005567.2:p.Gln299Lys