Canonical Allele Identifier: CA272713166

Gene: LOXL1

Linked Data

• dbSNP Id: rs903945546
• gnomAD v2: 15-74223039-G-C
• gnomAD v3: 15-73930698-G-C
• gnomAD v4: 15-73930698-G-C
• MyVariant Identifiers: chr15:g.74223039G>C (hg19) ; chr15:g.73930698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73930698G>C , CM000677.2:g.73930698G>C	GRCh38
NC_000015.9:g.74223039G>C , CM000677.1:g.74223039G>C	GRCh37
NC_000015.8:g.72010092G>C	NCBI36
NG_011466.1:g.9251G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1102+2813G>C MANE Select	ENSP00000261921.7:n.1102+2813G>C
ENST00000261921.7:c.1102+2813G>C	ENSP00000261921.7:n.1102+2813G>C
ENST00000566011.5:c.1102+2813G>C	ENSP00000457827.1:n.1102+2813G>C
NM_005576.2:c.1102+2813G>C	NP_005567.2:n.1102+2813G>C
XM_011521555.1:c.1102+2813G>C	XP_011519857.1:n.1102+2813G>C
XR_931824.1:n.1435+2813G>C
NM_005576.3:c.1102+2813G>C	NP_005567.2:n.1102+2813G>C
XM_011521555.2:c.1102+2813G>C	XP_011519857.1:n.1102+2813G>C
XR_931824.2:n.1424+2813G>C
NM_005576.4:c.1102+2813G>C MANE Select	NP_005567.2:n.1102+2813G>C