Canonical Allele Identifier: CA446049950

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405792G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070097G>T , CM000667.2:g.122070097G>T	GRCh38
NC_000005.9:g.121405792G>T , CM000667.1:g.121405792G>T	GRCh37
NC_000005.8:g.121433691G>T	NCBI36
NG_008722.1:g.13264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1203C>A (LOX) MANE Select	ENSP00000231004.4:p.Arg401=
ENST00000639739.2:c.*395C>A (LOX)	ENSP00000492324.2:n.*395C>A
ENST00000231004.4:c.1203C>A (LOX)	ENSP00000231004.4:p.Arg401=
ENST00000503759.5:n.794C>A (LOX)
ENST00000504881.1:n.312-5218G>T (SRFBP1)
ENST00000505593.5:n.529C>A (LOX)
ENST00000513319.5:n.546C>A (LOX)
NM_001178102.1:c.513C>A (LOX)	NP_001171573.1:p.Arg171=
NM_001178102.2:c.513C>A (LOX)	NP_001171573.1:p.Arg171=
NM_001317073.1:c.312C>A (LOX)	NP_001304002.1:p.Arg104=
NM_002317.5:c.1203C>A (LOX)	NP_002308.2:p.Arg401=
NM_002317.6:c.1203C>A (LOX)	NP_002308.2:p.Arg401=
XM_017009111.2:c.1106-5218G>T (SRFBP1)	XP_016864600.2:n.1106-5218G>T
NM_002317.7:c.1203C>A (LOX) MANE Select	NP_002308.2:p.Arg401=