Canonical Allele Identifier: CA3383940

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122075541A>C , CM000667.2:g.122075541A>C	GRCh38
NC_000005.9:g.121411236A>C , CM000667.1:g.121411236A>C	GRCh37
NC_000005.8:g.121439135A>C	NCBI36
NG_008722.1:g.7820T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.741T>G (LOX) MANE Select	NP_002308.2:p.Ser247Arg
ENST00000231004.5:c.741T>G (LOX) MANE Select	ENSP00000231004.4:p.Ser247Arg
NM_001178102.1:c.51T>G (LOX)	NP_001171573.1:p.Ser17Arg
NM_001178102.2:c.51T>G (LOX)	NP_001171573.1:p.Ser17Arg
NM_001317073.1:c.-151T>G (LOX)	NP_001304002.1:n.-151T>G
NM_002317.5:c.741T>G (LOX)	NP_002308.2:p.Ser247Arg
NM_002317.6:c.741T>G (LOX)	NP_002308.2:p.Ser247Arg
ENST00000231004.4:c.741T>G (LOX)	ENSP00000231004.4:p.Ser247Arg
ENST00000503759.5:n.332T>G (LOX)
ENST00000504881.1:n.538A>C (SRFBP1)
ENST00000505593.5:n.67T>G (LOX)
ENST00000508067.1:c.119T>G (LOX)	ENSP00000427538.1:p.Val40Gly
ENST00000513319.5:n.84T>G (LOX)
ENST00000639739.2:c.632T>G (LOX)	ENSP00000492324.2:p.Val211Gly
XM_017009111.2:c.*216A>C (SRFBP1)	XP_016864600.2:n.*216A>C