Canonical Allele Identifier: CA15840847

Gene: LOXL1

Linked Data

• ClinVar Variation Id: 14362
• ClinVar RCV Id: RCV000015436
• dbSNP Id: rs2165241
• gnomAD v2: 15-74222202-T-C
• gnomAD v3: 15-73929861-T-C
• gnomAD v4: 15-73929861-T-C
• MyVariant Identifiers: chr15:g.74222202T>C (hg19) ; chr15:g.73929861T>C (hg38)
• PubMed: PMID:19343041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73929861T>C , CM000677.2:g.73929861T>C	GRCh38
NC_000015.9:g.74222202T>C , CM000677.1:g.74222202T>C	GRCh37
NC_000015.8:g.72009255T>C	NCBI36
NG_011466.1:g.8414T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.1102+1976T>C MANE Select	ENSP00000261921.7:n.1102+1976T>C
ENST00000261921.7:c.1102+1976T>C	ENSP00000261921.7:n.1102+1976T>C
ENST00000566011.5:c.1102+1976T>C	ENSP00000457827.1:n.1102+1976T>C
NM_005576.2:c.1102+1976T>C	NP_005567.2:n.1102+1976T>C
XM_011521555.1:c.1102+1976T>C	XP_011519857.1:n.1102+1976T>C
XR_931824.1:n.1435+1976T>C
NM_005576.3:c.1102+1976T>C	NP_005567.2:n.1102+1976T>C
XM_011521555.2:c.1102+1976T>C	XP_011519857.1:n.1102+1976T>C
XR_931824.2:n.1424+1976T>C
NM_005576.4:c.1102+1976T>C MANE Select	NP_005567.2:n.1102+1976T>C