Canonical Allele Identifier: CA393104830

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs2141618557
• gnomAD v4: 15-73927713-C-A
• MyVariant Identifiers: chr15:g.74220054C>A (hg19) ; chr15:g.73927713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927713C>A , CM000677.2:g.73927713C>A	GRCh38
NC_000015.9:g.74220054C>A , CM000677.1:g.74220054C>A	GRCh37
NC_000015.8:g.72007107C>A	NCBI36
NG_011466.1:g.6266C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.930C>A (LOXL1) MANE Select	ENSP00000261921.7:p.Tyr310Ter
ENST00000261921.7:c.930C>A (LOXL1)	ENSP00000261921.7:p.Tyr310Ter
ENST00000566011.5:c.930C>A (LOXL1)	ENSP00000457827.1:p.Tyr310Ter
NM_005576.2:c.930C>A (LOXL1)	NP_005567.2:p.Tyr310Ter
NR_040066.1:n.74G>T (LOXL1-AS1)
NR_040067.1:n.74G>T (LOXL1-AS1)
NR_040068.1:n.184+352G>T (LOXL1-AS1)
NR_040069.1:n.184+352G>T (LOXL1-AS1)
NR_040070.1:n.184+64G>T (LOXL1-AS1)
XM_011521555.1:c.930C>A (LOXL1)	XP_011519857.1:p.Tyr310Ter
XR_931824.1:n.1263C>A (LOXL1)
NM_005576.3:c.930C>A (LOXL1)	NP_005567.2:p.Tyr310Ter
XM_011521555.2:c.930C>A (LOXL1)	XP_011519857.1:p.Tyr310Ter
XR_931824.2:n.1252C>A (LOXL1)
NM_005576.4:c.930C>A (LOXL1) MANE Select	NP_005567.2:p.Tyr310Ter