Canonical Allele Identifier: CA272722463

Gene: LOXL1

Linked Data

• dbSNP Id: rs181474850
• gnomAD v2: 15-74241444-C-T
• gnomAD v3: 15-73949103-C-T
• gnomAD v4: 15-73949103-C-T
• MyVariant Identifiers: chr15:g.74241444C>T (hg19) ; chr15:g.73949103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949103C>T , CM000677.2:g.73949103C>T	GRCh38
NC_000015.9:g.74241444C>T , CM000677.1:g.74241444C>T	GRCh37
NC_000015.8:g.72028497C>T	NCBI36
NG_011466.1:g.27656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-356C>T MANE Select	ENSP00000261921.7:n.1603-356C>T
ENST00000261921.7:c.1603-356C>T	ENSP00000261921.7:n.1603-356C>T
ENST00000562548.1:n.688-356C>T
ENST00000566011.5:c.*491-356C>T	ENSP00000457827.1:n.*491-356C>T
ENST00000566530.1:n.441-356C>T
ENST00000567675.1:n.76-356C>T
NM_005576.2:c.1603-356C>T	NP_005567.2:n.1603-356C>T
XR_931824.1:n.2120-356C>T
NM_005576.3:c.1603-356C>T	NP_005567.2:n.1603-356C>T
XM_017022179.1:c.556-356C>T	XP_016877668.1:n.556-356C>T
XR_931824.2:n.2109-356C>T
NM_005576.4:c.1603-356C>T MANE Select	NP_005567.2:n.1603-356C>T