Canonical Allele Identifier: CA272711782

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs933068120
• gnomAD v2: 15-74220104-T-C
• gnomAD v3: 15-73927763-T-C
• gnomAD v4: 15-73927763-T-C
• MyVariant Identifiers: chr15:g.74220104T>C (hg19) ; chr15:g.73927763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927763T>C , CM000677.2:g.73927763T>C	GRCh38
NC_000015.9:g.74220104T>C , CM000677.1:g.74220104T>C	GRCh37
NC_000015.8:g.72007157T>C	NCBI36
NG_011466.1:g.6316T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261921.8:c.980T>C (LOXL1) MANE Select	ENSP00000261921.7:p.Leu327Pro
ENST00000261921.7:c.980T>C (LOXL1)	ENSP00000261921.7:p.Leu327Pro
ENST00000566011.5:c.980T>C (LOXL1)	ENSP00000457827.1:p.Leu327Pro
NM_005576.2:c.980T>C (LOXL1)	NP_005567.2:p.Leu327Pro
NR_040066.1:n.24A>G (LOXL1-AS1)
NR_040067.1:n.24A>G (LOXL1-AS1)
NR_040068.1:n.184+302A>G (LOXL1-AS1)
NR_040069.1:n.184+302A>G (LOXL1-AS1)
NR_040070.1:n.184+14A>G (LOXL1-AS1)
XM_011521555.1:c.980T>C (LOXL1)	XP_011519857.1:p.Leu327Pro
XR_931824.1:n.1313T>C (LOXL1)
NM_005576.3:c.980T>C (LOXL1)	NP_005567.2:p.Leu327Pro
XM_011521555.2:c.980T>C (LOXL1)	XP_011519857.1:p.Leu327Pro
XR_931824.2:n.1302T>C (LOXL1)
NM_005576.4:c.980T>C (LOXL1) MANE Select	NP_005567.2:p.Leu327Pro