Canonical Allele Identifier: CA360880329

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405846G>C (hg19) ; chr5:g.122070151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070151G>C , CM000667.2:g.122070151G>C	GRCh38
NC_000005.9:g.121405846G>C , CM000667.1:g.121405846G>C	GRCh37
NC_000005.8:g.121433745G>C	NCBI36
NG_008722.1:g.13210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1149C>G (LOX) MANE Select	ENSP00000231004.4:p.Ser383Arg
ENST00000639739.2:c.*341C>G (LOX)	ENSP00000492324.2:n.*341C>G
ENST00000231004.4:c.1149C>G (LOX)	ENSP00000231004.4:p.Ser383Arg
ENST00000503759.5:n.740C>G (LOX)
ENST00000504881.1:n.312-5164G>C (SRFBP1)
ENST00000505593.5:n.475C>G (LOX)
ENST00000513319.5:n.492C>G (LOX)
NM_001178102.1:c.459C>G (LOX)	NP_001171573.1:p.Ser153Arg
NM_001178102.2:c.459C>G (LOX)	NP_001171573.1:p.Ser153Arg
NM_001317073.1:c.258C>G (LOX)	NP_001304002.1:p.Ser86Arg
NM_002317.5:c.1149C>G (LOX)	NP_002308.2:p.Ser383Arg
NM_002317.6:c.1149C>G (LOX)	NP_002308.2:p.Ser383Arg
XM_017009111.2:c.1106-5164G>C (SRFBP1)	XP_016864600.2:n.1106-5164G>C
NM_002317.7:c.1149C>G (LOX) MANE Select	NP_002308.2:p.Ser383Arg