Canonical Allele Identifier: CA393107027

Gene: LOXL1

Linked Data

• MyVariant Identifiers: chr15:g.74238777G>T (hg19) ; chr15:g.73946436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73946436G>T , CM000677.2:g.73946436G>T	GRCh38
NC_000015.9:g.74238777G>T , CM000677.1:g.74238777G>T	GRCh37
NC_000015.8:g.72025830G>T	NCBI36
NG_011466.1:g.24989G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1231G>T MANE Select	ENSP00000261921.7:p.Ala411Ser
ENST00000261921.7:c.1231G>T	ENSP00000261921.7:p.Ala411Ser
ENST00000566011.5:c.*119G>T	ENSP00000457827.1:n.*119G>T
ENST00000566530.1:n.69G>T
NM_005576.2:c.1231G>T	NP_005567.2:p.Ala411Ser
XR_931824.1:n.1748G>T
NM_005576.3:c.1231G>T	NP_005567.2:p.Ala411Ser
XM_017022179.1:c.184G>T	XP_016877668.1:p.Ala62Ser
XR_931824.2:n.1737G>T
NM_005576.4:c.1231G>T MANE Select	NP_005567.2:p.Ala411Ser