Canonical Allele Identifier: CA360880211

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 2575661
• ClinVar RCV Id: RCV003321227
• dbSNP Id: rs1463695782
• gnomAD v2: 5-121405793-C-T
• gnomAD v4: 5-122070098-C-T
• MyVariant Identifiers: chr5:g.121405793C>T (hg19) ; chr5:g.122070098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070098C>T , CM000667.2:g.122070098C>T	GRCh38
NC_000005.9:g.121405793C>T , CM000667.1:g.121405793C>T	GRCh37
NC_000005.8:g.121433692C>T	NCBI36
NG_008722.1:g.13263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1202G>A (LOX) MANE Select	ENSP00000231004.4:p.Arg401His
ENST00000639739.2:c.*394G>A (LOX)	ENSP00000492324.2:n.*394G>A
ENST00000231004.4:c.1202G>A (LOX)	ENSP00000231004.4:p.Arg401His
ENST00000503759.5:n.793G>A (LOX)
ENST00000504881.1:n.312-5217C>T (SRFBP1)
ENST00000505593.5:n.528G>A (LOX)
ENST00000513319.5:n.545G>A (LOX)
NM_001178102.1:c.512G>A (LOX)	NP_001171573.1:p.Arg171His
NM_001178102.2:c.512G>A (LOX)	NP_001171573.1:p.Arg171His
NM_001317073.1:c.311G>A (LOX)	NP_001304002.1:p.Arg104His
NM_002317.5:c.1202G>A (LOX)	NP_002308.2:p.Arg401His
NM_002317.6:c.1202G>A (LOX)	NP_002308.2:p.Arg401His
XM_017009111.2:c.1106-5217C>T (SRFBP1)	XP_016864600.2:n.1106-5217C>T
NM_002317.7:c.1202G>A (LOX) MANE Select	NP_002308.2:p.Arg401His