Canonical Allele Identifier: CA3383824

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 1742647
• ClinVar RCV Id: RCV002335397
• dbSNP Id: rs779159018
• ExAC: 5:121405813 A / G
• gnomAD v2: 5-121405813-A-G
• gnomAD v3: 5-122070118-A-G
• gnomAD v4: 5-122070118-A-G
• MyVariant Identifiers: chr5:g.121405813A>G (hg19) ; chr5:g.122070118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070118A>G , CM000667.2:g.122070118A>G	GRCh38
NC_000005.9:g.121405813A>G , CM000667.1:g.121405813A>G	GRCh37
NC_000005.8:g.121433712A>G	NCBI36
NG_008722.1:g.13243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1182T>C (LOX) MANE Select	ENSP00000231004.4:p.Asn394=
ENST00000639739.2:c.*374T>C (LOX)	ENSP00000492324.2:n.*374T>C
ENST00000231004.4:c.1182T>C (LOX)	ENSP00000231004.4:p.Asn394=
ENST00000503759.5:n.773T>C (LOX)
ENST00000504881.1:n.312-5197A>G (SRFBP1)
ENST00000505593.5:n.508T>C (LOX)
ENST00000513319.5:n.525T>C (LOX)
NM_001178102.1:c.492T>C (LOX)	NP_001171573.1:p.Asn164=
NM_001178102.2:c.492T>C (LOX)	NP_001171573.1:p.Asn164=
NM_001317073.1:c.291T>C (LOX)	NP_001304002.1:p.Asn97=
NM_002317.5:c.1182T>C (LOX)	NP_002308.2:p.Asn394=
NM_002317.6:c.1182T>C (LOX)	NP_002308.2:p.Asn394=
XM_017009111.2:c.1106-5197A>G (SRFBP1)	XP_016864600.2:n.1106-5197A>G
NM_002317.7:c.1182T>C (LOX) MANE Select	NP_002308.2:p.Asn394=