Canonical Allele Identifier: CA715623980

Gene: LOXL1

Linked Data

• dbSNP Id: rs1242156336
• gnomAD v3: 15-73949076-C-T
• gnomAD v4: 15-73949076-C-T
• MyVariant Identifiers: chr15:g.74241417C>T (hg19) ; chr15:g.73949076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949076C>T , CM000677.2:g.73949076C>T	GRCh38
NC_000015.9:g.74241417C>T , CM000677.1:g.74241417C>T	GRCh37
NC_000015.8:g.72028470C>T	NCBI36
NG_011466.1:g.27629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1603-383C>T MANE Select	ENSP00000261921.7:n.1603-383C>T
ENST00000261921.7:c.1603-383C>T	ENSP00000261921.7:n.1603-383C>T
ENST00000562548.1:n.688-383C>T
ENST00000566011.5:c.*491-383C>T	ENSP00000457827.1:n.*491-383C>T
ENST00000566530.1:n.441-383C>T
ENST00000567675.1:n.76-383C>T
NM_005576.2:c.1603-383C>T	NP_005567.2:n.1603-383C>T
XR_931824.1:n.2120-383C>T
NM_005576.3:c.1603-383C>T	NP_005567.2:n.1603-383C>T
XM_017022179.1:c.556-383C>T	XP_016877668.1:n.556-383C>T
XR_931824.2:n.2109-383C>T
NM_005576.4:c.1603-383C>T MANE Select	NP_005567.2:n.1603-383C>T