Canonical Allele Identifier: CA619093394

Gene: LOXL1

Linked Data

• gnomAD v2: 15-74241423-T-C
• MyVariant Identifiers: chr15:g.74241423T>C (hg19) ; chr15:g.73949082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73949082T>C , CM000677.2:g.73949082T>C	GRCh38
NC_000015.9:g.74241423T>C , CM000677.1:g.74241423T>C	GRCh37
NC_000015.8:g.72028476T>C	NCBI36
NG_011466.1:g.27635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1603-377T>C MANE Select	ENSP00000261921.7:n.1603-377T>C
ENST00000261921.7:c.1603-377T>C	ENSP00000261921.7:n.1603-377T>C
ENST00000562548.1:n.688-377T>C
ENST00000566011.5:c.*491-377T>C	ENSP00000457827.1:n.*491-377T>C
ENST00000566530.1:n.441-377T>C
ENST00000567675.1:n.76-377T>C
NM_005576.2:c.1603-377T>C	NP_005567.2:n.1603-377T>C
XR_931824.1:n.2120-377T>C
NM_005576.3:c.1603-377T>C	NP_005567.2:n.1603-377T>C
XM_017022179.1:c.556-377T>C	XP_016877668.1:n.556-377T>C
XR_931824.2:n.2109-377T>C
NM_005576.4:c.1603-377T>C MANE Select	NP_005567.2:n.1603-377T>C