Canonical Allele Identifier: CA360880228

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405800C>T (hg19) ; chr5:g.122070105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070105C>T , CM000667.2:g.122070105C>T	GRCh38
NC_000005.9:g.121405800C>T , CM000667.1:g.121405800C>T	GRCh37
NC_000005.8:g.121433699C>T	NCBI36
NG_008722.1:g.13256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1195G>A (LOX) MANE Select	ENSP00000231004.4:p.Asp399Asn
ENST00000639739.2:c.*387G>A (LOX)	ENSP00000492324.2:n.*387G>A
ENST00000231004.4:c.1195G>A (LOX)	ENSP00000231004.4:p.Asp399Asn
ENST00000503759.5:n.786G>A (LOX)
ENST00000504881.1:n.312-5210C>T (SRFBP1)
ENST00000505593.5:n.521G>A (LOX)
ENST00000513319.5:n.538G>A (LOX)
NM_001178102.1:c.505G>A (LOX)	NP_001171573.1:p.Asp169Asn
NM_001178102.2:c.505G>A (LOX)	NP_001171573.1:p.Asp169Asn
NM_001317073.1:c.304G>A (LOX)	NP_001304002.1:p.Asp102Asn
NM_002317.5:c.1195G>A (LOX)	NP_002308.2:p.Asp399Asn
NM_002317.6:c.1195G>A (LOX)	NP_002308.2:p.Asp399Asn
XM_017009111.2:c.1106-5210C>T (SRFBP1)	XP_016864600.2:n.1106-5210C>T
NM_002317.7:c.1195G>A (LOX) MANE Select	NP_002308.2:p.Asp399Asn