Canonical Allele Identifier: CA3383823

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 1215447
• ClinVar RCV Id: RCV001585329 ; RCV001780413
• dbSNP Id: rs768819499
• ExAC: 5:121405806 G / A
• gnomAD v2: 5-121405806-G-A
• gnomAD v4: 5-122070111-G-A
• MyVariant Identifiers: chr5:g.121405806G>A (hg19) ; chr5:g.122070111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070111G>A , CM000667.2:g.122070111G>A	GRCh38
NC_000005.9:g.121405806G>A , CM000667.1:g.121405806G>A	GRCh37
NC_000005.8:g.121433705G>A	NCBI36
NG_008722.1:g.13250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1189C>T (LOX) MANE Select	ENSP00000231004.4:p.Arg397Cys
ENST00000639739.2:c.*381C>T (LOX)	ENSP00000492324.2:n.*381C>T
ENST00000231004.4:c.1189C>T (LOX)	ENSP00000231004.4:p.Arg397Cys
ENST00000503759.5:n.780C>T (LOX)
ENST00000504881.1:n.312-5204G>A (SRFBP1)
ENST00000505593.5:n.515C>T (LOX)
ENST00000513319.5:n.532C>T (LOX)
NM_001178102.1:c.499C>T (LOX)	NP_001171573.1:p.Arg167Cys
NM_001178102.2:c.499C>T (LOX)	NP_001171573.1:p.Arg167Cys
NM_001317073.1:c.298C>T (LOX)	NP_001304002.1:p.Arg100Cys
NM_002317.5:c.1189C>T (LOX)	NP_002308.2:p.Arg397Cys
NM_002317.6:c.1189C>T (LOX)	NP_002308.2:p.Arg397Cys
XM_017009111.2:c.1106-5204G>A (SRFBP1)	XP_016864600.2:n.1106-5204G>A
NM_002317.7:c.1189C>T (LOX) MANE Select	NP_002308.2:p.Arg397Cys