Canonical Allele Identifier: CA360880239

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070111-G-C
• MyVariant Identifiers: chr5:g.121405806G>C (hg19) ; chr5:g.122070111G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1189C>G (LOX) MANE Select	ENSP00000231004.4:p.Arg397Gly
ENST00000639739.2:c.*381C>G (LOX)	ENSP00000492324.2:n.*381C>G
ENST00000231004.4:c.1189C>G (LOX)	ENSP00000231004.4:p.Arg397Gly
ENST00000503759.5:n.780C>G (LOX)
ENST00000504881.1:n.312-5204G>C (SRFBP1)
ENST00000505593.5:n.515C>G (LOX)
ENST00000513319.5:n.532C>G (LOX)
NM_001178102.1:c.499C>G (LOX)	NP_001171573.1:p.Arg167Gly
NM_001178102.2:c.499C>G (LOX)	NP_001171573.1:p.Arg167Gly
NM_001317073.1:c.298C>G (LOX)	NP_001304002.1:p.Arg100Gly
NM_002317.5:c.1189C>G (LOX)	NP_002308.2:p.Arg397Gly
NM_002317.6:c.1189C>G (LOX)	NP_002308.2:p.Arg397Gly
XM_017009111.2:c.1106-5204G>C (SRFBP1)	XP_016864600.2:n.1106-5204G>C
NM_002317.7:c.1189C>G (LOX) MANE Select	NP_002308.2:p.Arg397Gly