Canonical Allele Identifier: CA393104870

Gene: LOXL1 LOXL1-AS1

Linked Data

• gnomAD v4: 15-73927732-C-T
• MyVariant Identifiers: chr15:g.74220073C>T (hg19) ; chr15:g.73927732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927732C>T , CM000677.2:g.73927732C>T	GRCh38
NC_000015.9:g.74220073C>T , CM000677.1:g.74220073C>T	GRCh37
NC_000015.8:g.72007126C>T	NCBI36
NG_011466.1:g.6285C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.949C>T (LOXL1) MANE Select	ENSP00000261921.7:p.Pro317Ser
ENST00000261921.7:c.949C>T (LOXL1)	ENSP00000261921.7:p.Pro317Ser
ENST00000566011.5:c.949C>T (LOXL1)	ENSP00000457827.1:p.Pro317Ser
NM_005576.2:c.949C>T (LOXL1)	NP_005567.2:p.Pro317Ser
NR_040066.1:n.55G>A (LOXL1-AS1)
NR_040067.1:n.55G>A (LOXL1-AS1)
NR_040068.1:n.184+333G>A (LOXL1-AS1)
NR_040069.1:n.184+333G>A (LOXL1-AS1)
NR_040070.1:n.184+45G>A (LOXL1-AS1)
XM_011521555.1:c.949C>T (LOXL1)	XP_011519857.1:p.Pro317Ser
XR_931824.1:n.1282C>T (LOXL1)
NM_005576.3:c.949C>T (LOXL1)	NP_005567.2:p.Pro317Ser
XM_011521555.2:c.949C>T (LOXL1)	XP_011519857.1:p.Pro317Ser
XR_931824.2:n.1271C>T (LOXL1)
NM_005576.4:c.949C>T (LOXL1) MANE Select	NP_005567.2:p.Pro317Ser