Canonical Allele Identifier: CA491167258

Gene: LOXL1

Linked Data

• gnomAD v4: 15-73946432-T-C
• MyVariant Identifiers: chr15:g.74238773T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73946432T>C , CM000677.2:g.73946432T>C	GRCh38
NC_000015.9:g.74238773T>C , CM000677.1:g.74238773T>C	GRCh37
NC_000015.8:g.72025826T>C	NCBI36
NG_011466.1:g.24985T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1227T>C MANE Select	ENSP00000261921.7:p.Pro409=
ENST00000261921.7:c.1227T>C	ENSP00000261921.7:p.Pro409=
ENST00000566011.5:c.*115T>C	ENSP00000457827.1:n.*115T>C
ENST00000566530.1:n.65T>C
NM_005576.2:c.1227T>C	NP_005567.2:p.Pro409=
XR_931824.1:n.1744T>C
NM_005576.3:c.1227T>C	NP_005567.2:p.Pro409=
XM_017022179.1:c.180T>C	XP_016877668.1:p.Pro60=
XR_931824.2:n.1733T>C
NM_005576.4:c.1227T>C MANE Select	NP_005567.2:p.Pro409=