Canonical Allele Identifier: CA393104866

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs1424962378
• gnomAD v2: 15-74220071-C-T
• gnomAD v4: 15-73927730-C-T
• MyVariant Identifiers: chr15:g.74220071C>T (hg19) ; chr15:g.73927730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927730C>T , CM000677.2:g.73927730C>T	GRCh38
NC_000015.9:g.74220071C>T , CM000677.1:g.74220071C>T	GRCh37
NC_000015.8:g.72007124C>T	NCBI36
NG_011466.1:g.6283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.947C>T (LOXL1) MANE Select	ENSP00000261921.7:p.Pro316Leu
ENST00000261921.7:c.947C>T (LOXL1)	ENSP00000261921.7:p.Pro316Leu
ENST00000566011.5:c.947C>T (LOXL1)	ENSP00000457827.1:p.Pro316Leu
NM_005576.2:c.947C>T (LOXL1)	NP_005567.2:p.Pro316Leu
NR_040066.1:n.57G>A (LOXL1-AS1)
NR_040067.1:n.57G>A (LOXL1-AS1)
NR_040068.1:n.184+335G>A (LOXL1-AS1)
NR_040069.1:n.184+335G>A (LOXL1-AS1)
NR_040070.1:n.184+47G>A (LOXL1-AS1)
XM_011521555.1:c.947C>T (LOXL1)	XP_011519857.1:p.Pro316Leu
XR_931824.1:n.1280C>T (LOXL1)
NM_005576.3:c.947C>T (LOXL1)	NP_005567.2:p.Pro316Leu
XM_011521555.2:c.947C>T (LOXL1)	XP_011519857.1:p.Pro316Leu
XR_931824.2:n.1269C>T (LOXL1)
NM_005576.4:c.947C>T (LOXL1) MANE Select	NP_005567.2:p.Pro316Leu