Canonical Allele Identifier: CA360880369

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405863C>T (hg19) ; chr5:g.122070168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070168C>T , CM000667.2:g.122070168C>T	GRCh38
NC_000005.9:g.121405863C>T , CM000667.1:g.121405863C>T	GRCh37
NC_000005.8:g.121433762C>T	NCBI36
NG_008722.1:g.13193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1132G>A (LOX) MANE Select	ENSP00000231004.4:p.Val378Ile
ENST00000639739.2:c.*324G>A (LOX)	ENSP00000492324.2:n.*324G>A
ENST00000231004.4:c.1132G>A (LOX)	ENSP00000231004.4:p.Val378Ile
ENST00000503759.5:n.723G>A (LOX)
ENST00000504881.1:n.312-5147C>T (SRFBP1)
ENST00000505593.5:n.458G>A (LOX)
ENST00000513319.5:n.475G>A (LOX)
NM_001178102.1:c.442G>A (LOX)	NP_001171573.1:p.Val148Ile
NM_001178102.2:c.442G>A (LOX)	NP_001171573.1:p.Val148Ile
NM_001317073.1:c.241G>A (LOX)	NP_001304002.1:p.Val81Ile
NM_002317.5:c.1132G>A (LOX)	NP_002308.2:p.Val378Ile
NM_002317.6:c.1132G>A (LOX)	NP_002308.2:p.Val378Ile
XM_017009111.2:c.1106-5147C>T (SRFBP1)	XP_016864600.2:n.1106-5147C>T
NM_002317.7:c.1132G>A (LOX) MANE Select	NP_002308.2:p.Val378Ile