Canonical Allele Identifier: CA272712798

Gene: LOXL1

Linked Data

• dbSNP Id: rs995110785
• gnomAD v3: 15-73929832-A-C
• gnomAD v4: 15-73929832-A-C
• MyVariant Identifiers: chr15:g.74222173A>C (hg19) ; chr15:g.73929832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73929832A>C , CM000677.2:g.73929832A>C	GRCh38
NC_000015.9:g.74222173A>C , CM000677.1:g.74222173A>C	GRCh37
NC_000015.8:g.72009226A>C	NCBI36
NG_011466.1:g.8385A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1102+1947A>C MANE Select	ENSP00000261921.7:n.1102+1947A>C
ENST00000261921.7:c.1102+1947A>C	ENSP00000261921.7:n.1102+1947A>C
ENST00000566011.5:c.1102+1947A>C	ENSP00000457827.1:n.1102+1947A>C
NM_005576.2:c.1102+1947A>C	NP_005567.2:n.1102+1947A>C
XM_011521555.1:c.1102+1947A>C	XP_011519857.1:n.1102+1947A>C
XR_931824.1:n.1435+1947A>C
NM_005576.3:c.1102+1947A>C	NP_005567.2:n.1102+1947A>C
XM_011521555.2:c.1102+1947A>C	XP_011519857.1:n.1102+1947A>C
XR_931824.2:n.1424+1947A>C
NM_005576.4:c.1102+1947A>C MANE Select	NP_005567.2:n.1102+1947A>C