Canonical Allele Identifier: CA360880286

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 2839495
• ClinVar RCV Id: RCV003723479
• MyVariant Identifiers: chr5:g.121405826T>G (hg19) ; chr5:g.122070131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070131T>G , CM000667.2:g.122070131T>G	GRCh38
NC_000005.9:g.121405826T>G , CM000667.1:g.121405826T>G	GRCh37
NC_000005.8:g.121433725T>G	NCBI36
NG_008722.1:g.13230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1169A>C (LOX) MANE Select	ENSP00000231004.4:p.Asp390Ala
ENST00000639739.2:c.*361A>C (LOX)	ENSP00000492324.2:n.*361A>C
ENST00000231004.4:c.1169A>C (LOX)	ENSP00000231004.4:p.Asp390Ala
ENST00000503759.5:n.760A>C (LOX)
ENST00000504881.1:n.312-5184T>G (SRFBP1)
ENST00000505593.5:n.495A>C (LOX)
ENST00000513319.5:n.512A>C (LOX)
NM_001178102.1:c.479A>C (LOX)	NP_001171573.1:p.Asp160Ala
NM_001178102.2:c.479A>C (LOX)	NP_001171573.1:p.Asp160Ala
NM_001317073.1:c.278A>C (LOX)	NP_001304002.1:p.Asp93Ala
NM_002317.5:c.1169A>C (LOX)	NP_002308.2:p.Asp390Ala
NM_002317.6:c.1169A>C (LOX)	NP_002308.2:p.Asp390Ala
XM_017009111.2:c.1106-5184T>G (SRFBP1)	XP_016864600.2:n.1106-5184T>G
NM_002317.7:c.1169A>C (LOX) MANE Select	NP_002308.2:p.Asp390Ala