Canonical Allele Identifier: CA360880359

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070164-C-A
• MyVariant Identifiers: chr5:g.121405859C>A (hg19) ; chr5:g.122070164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070164C>A , CM000667.2:g.122070164C>A	GRCh38
NC_000005.9:g.121405859C>A , CM000667.1:g.121405859C>A	GRCh37
NC_000005.8:g.121433758C>A	NCBI36
NG_008722.1:g.13197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1136G>T (LOX) MANE Select	ENSP00000231004.4:p.Ser379Ile
ENST00000639739.2:c.*328G>T (LOX)	ENSP00000492324.2:n.*328G>T
ENST00000231004.4:c.1136G>T (LOX)	ENSP00000231004.4:p.Ser379Ile
ENST00000503759.5:n.727G>T (LOX)
ENST00000504881.1:n.312-5151C>A (SRFBP1)
ENST00000505593.5:n.462G>T (LOX)
ENST00000513319.5:n.479G>T (LOX)
NM_001178102.1:c.446G>T (LOX)	NP_001171573.1:p.Ser149Ile
NM_001178102.2:c.446G>T (LOX)	NP_001171573.1:p.Ser149Ile
NM_001317073.1:c.245G>T (LOX)	NP_001304002.1:p.Ser82Ile
NM_002317.5:c.1136G>T (LOX)	NP_002308.2:p.Ser379Ile
NM_002317.6:c.1136G>T (LOX)	NP_002308.2:p.Ser379Ile
XM_017009111.2:c.1106-5151C>A (SRFBP1)	XP_016864600.2:n.1106-5151C>A
NM_002317.7:c.1136G>T (LOX) MANE Select	NP_002308.2:p.Ser379Ile