Canonical Allele Identifier: CA393104859
Gene: LOXL1 HGNC NCBI
LOXL1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2141618590

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73927727A>C , CM000677.2:g.73927727A>C GRCh38
NC_000015.9:g.74220068A>C , CM000677.1:g.74220068A>C GRCh37
NC_000015.8:g.72007121A>C NCBI36
NG_011466.1:g.6280A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.944A>C (LOXL1) MANE Select ENSP00000261921.7:p.Asn315Thr
ENST00000261921.7:c.944A>C (LOXL1) ENSP00000261921.7:p.Asn315Thr
ENST00000566011.5:c.944A>C (LOXL1) ENSP00000457827.1:p.Asn315Thr
NM_005576.2:c.944A>C (LOXL1) NP_005567.2:p.Asn315Thr
NR_040066.1:n.60T>G (LOXL1-AS1)
NR_040067.1:n.60T>G (LOXL1-AS1)
NR_040068.1:n.184+338T>G (LOXL1-AS1)
NR_040069.1:n.184+338T>G (LOXL1-AS1)
NR_040070.1:n.184+50T>G (LOXL1-AS1)
XM_011521555.1:c.944A>C (LOXL1) XP_011519857.1:p.Asn315Thr
XR_931824.1:n.1277A>C (LOXL1)
NM_005576.3:c.944A>C (LOXL1) NP_005567.2:p.Asn315Thr
XM_011521555.2:c.944A>C (LOXL1) XP_011519857.1:p.Asn315Thr
XR_931824.2:n.1266A>C (LOXL1)
NM_005576.4:c.944A>C (LOXL1) MANE Select NP_005567.2:p.Asn315Thr