Canonical Allele Identifier: CA393104728

Gene: LOXL1 LOXL1-AS1

Linked Data

• dbSNP Id: rs2068596941
• gnomAD v3: 15-73927664-G-C
• gnomAD v4: 15-73927664-G-C
• MyVariant Identifiers: chr15:g.74220005G>C (hg19) ; chr15:g.73927664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73927664G>C , CM000677.2:g.73927664G>C	GRCh38
NC_000015.9:g.74220005G>C , CM000677.1:g.74220005G>C	GRCh37
NC_000015.8:g.72007058G>C	NCBI36
NG_011466.1:g.6217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.881G>C (LOXL1) MANE Select	ENSP00000261921.7:p.Gly294Ala
ENST00000261921.7:c.881G>C (LOXL1)	ENSP00000261921.7:p.Gly294Ala
ENST00000566011.5:c.881G>C (LOXL1)	ENSP00000457827.1:p.Gly294Ala
NM_005576.2:c.881G>C (LOXL1)	NP_005567.2:p.Gly294Ala
NR_040066.1:n.123C>G (LOXL1-AS1)
NR_040067.1:n.123C>G (LOXL1-AS1)
NR_040068.1:n.184+401C>G (LOXL1-AS1)
NR_040069.1:n.184+401C>G (LOXL1-AS1)
NR_040070.1:n.184+113C>G (LOXL1-AS1)
XM_011521555.1:c.881G>C (LOXL1)	XP_011519857.1:p.Gly294Ala
XR_931824.1:n.1214G>C (LOXL1)
NM_005576.3:c.881G>C (LOXL1)	NP_005567.2:p.Gly294Ala
XM_011521555.2:c.881G>C (LOXL1)	XP_011519857.1:p.Gly294Ala
XR_931824.2:n.1203G>C (LOXL1)
NM_005576.4:c.881G>C (LOXL1) MANE Select	NP_005567.2:p.Gly294Ala