Canonical Allele Identifier: CA272711719

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs557922714
• gnomAD v2: 15-74220074-C-A
• gnomAD v3: 15-73927733-C-A
• gnomAD v4: 15-73927733-C-A
• MyVariant Identifiers: chr15:g.74220074C>A (hg19) ; chr15:g.73927733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927733C>A , CM000677.2:g.73927733C>A	GRCh38
NC_000015.9:g.74220074C>A , CM000677.1:g.74220074C>A	GRCh37
NC_000015.8:g.72007127C>A	NCBI36
NG_011466.1:g.6286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.950C>A (LOXL1) MANE Select	ENSP00000261921.7:p.Pro317Gln
ENST00000261921.7:c.950C>A (LOXL1)	ENSP00000261921.7:p.Pro317Gln
ENST00000566011.5:c.950C>A (LOXL1)	ENSP00000457827.1:p.Pro317Gln
NM_005576.2:c.950C>A (LOXL1)	NP_005567.2:p.Pro317Gln
NR_040066.1:n.54G>T (LOXL1-AS1)
NR_040067.1:n.54G>T (LOXL1-AS1)
NR_040068.1:n.184+332G>T (LOXL1-AS1)
NR_040069.1:n.184+332G>T (LOXL1-AS1)
NR_040070.1:n.184+44G>T (LOXL1-AS1)
XM_011521555.1:c.950C>A (LOXL1)	XP_011519857.1:p.Pro317Gln
XR_931824.1:n.1283C>A (LOXL1)
NM_005576.3:c.950C>A (LOXL1)	NP_005567.2:p.Pro317Gln
XM_011521555.2:c.950C>A (LOXL1)	XP_011519857.1:p.Pro317Gln
XR_931824.2:n.1272C>A (LOXL1)
NM_005576.4:c.950C>A (LOXL1) MANE Select	NP_005567.2:p.Pro317Gln