Canonical Allele Identifier: CA446049922

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070058A>G , CM000667.2:g.122070058A>G	GRCh38
NC_000005.9:g.121405753A>G , CM000667.1:g.121405753A>G	GRCh37
NC_000005.8:g.121433652A>G	NCBI36
NG_008722.1:g.13303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1242T>C (LOX) MANE Select	ENSP00000231004.4:p.Ile414=
ENST00000639739.2:c.*434T>C (LOX)	ENSP00000492324.2:n.*434T>C
ENST00000231004.4:c.1242T>C (LOX)	ENSP00000231004.4:p.Ile414=
ENST00000503759.5:n.833T>C (LOX)
ENST00000504881.1:n.312-5257A>G (SRFBP1)
ENST00000505593.5:n.568T>C (LOX)
ENST00000513319.5:n.585T>C (LOX)
NM_001178102.1:c.552T>C (LOX)	NP_001171573.1:p.Ile184=
NM_001178102.2:c.552T>C (LOX)	NP_001171573.1:p.Ile184=
NM_001317073.1:c.351T>C (LOX)	NP_001304002.1:p.Ile117=
NM_002317.5:c.1242T>C (LOX)	NP_002308.2:p.Ile414=
NM_002317.6:c.1242T>C (LOX)	NP_002308.2:p.Ile414=
XM_017009111.2:c.1106-5257A>G (SRFBP1)	XP_016864600.2:n.1106-5257A>G
NM_002317.7:c.1242T>C (LOX) MANE Select	NP_002308.2:p.Ile414=