Canonical Allele Identifier: CA393107009

Gene: LOXL1

Linked Data

• gnomAD v4: 15-73946427-G-T
• MyVariant Identifiers: chr15:g.74238768G>T (hg19) ; chr15:g.73946427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73946427G>T , CM000677.2:g.73946427G>T	GRCh38
NC_000015.9:g.74238768G>T , CM000677.1:g.74238768G>T	GRCh37
NC_000015.8:g.72025821G>T	NCBI36
NG_011466.1:g.24980G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1222G>T MANE Select	ENSP00000261921.7:p.Ala408Ser
ENST00000261921.7:c.1222G>T	ENSP00000261921.7:p.Ala408Ser
ENST00000566011.5:c.*110G>T	ENSP00000457827.1:n.*110G>T
ENST00000566530.1:n.60G>T
NM_005576.2:c.1222G>T	NP_005567.2:p.Ala408Ser
XR_931824.1:n.1739G>T
NM_005576.3:c.1222G>T	NP_005567.2:p.Ala408Ser
XM_017022179.1:c.175G>T	XP_016877668.1:p.Ala59Ser
XR_931824.2:n.1728G>T
NM_005576.4:c.1222G>T MANE Select	NP_005567.2:p.Ala408Ser