Canonical Allele Identifier: CA272716696

Gene: LOXL1

Linked Data

• dbSNP Id: rs1027949368
• gnomAD v2: 15-74229070-C-T
• gnomAD v3: 15-73936729-C-T
• gnomAD v4: 15-73936729-C-T
• MyVariant Identifiers: chr15:g.74229070C>T (hg19) ; chr15:g.73936729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73936729C>T , CM000677.2:g.73936729C>T	GRCh38
NC_000015.9:g.74229070C>T , CM000677.1:g.74229070C>T	GRCh37
NC_000015.8:g.72016123C>T	NCBI36
NG_011466.1:g.15282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261921.8:c.1103-6125C>T MANE Select	ENSP00000261921.7:n.1103-6125C>T
ENST00000261921.7:c.1103-6125C>T	ENSP00000261921.7:n.1103-6125C>T
ENST00000566011.5:c.1103-5146C>T	ENSP00000457827.1:n.1103-5146C>T
NM_005576.2:c.1103-6125C>T	NP_005567.2:n.1103-6125C>T
XM_011521555.1:c.1103-5146C>T	XP_011519857.1:n.1103-5146C>T
XR_931824.1:n.1436-5146C>T
NM_005576.3:c.1103-6125C>T	NP_005567.2:n.1103-6125C>T
XM_011521555.2:c.1103-5146C>T	XP_011519857.1:n.1103-5146C>T
XR_931824.2:n.1425-5146C>T
NM_005576.4:c.1103-6125C>T MANE Select	NP_005567.2:n.1103-6125C>T