Canonical Allele Identifier: CA446051833

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122075457T>G , CM000667.2:g.122075457T>G	GRCh38
NC_000005.9:g.121411152T>G , CM000667.1:g.121411152T>G	GRCh37
NC_000005.8:g.121439051T>G	NCBI36
NG_008722.1:g.7904A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.825A>C (LOX) MANE Select	NP_002308.2:p.Ser275=
ENST00000231004.5:c.825A>C (LOX) MANE Select	ENSP00000231004.4:p.Ser275=
NM_001178102.1:c.135A>C (LOX)	NP_001171573.1:p.Ser45=
NM_001178102.2:c.135A>C (LOX)	NP_001171573.1:p.Ser45=
NM_001317073.1:c.-67A>C (LOX)	NP_001304002.1:n.-67A>C
NM_002317.5:c.825A>C (LOX)	NP_002308.2:p.Ser275=
NM_002317.6:c.825A>C (LOX)	NP_002308.2:p.Ser275=
ENST00000231004.4:c.825A>C (LOX)	ENSP00000231004.4:p.Ser275=
ENST00000503759.5:n.416A>C (LOX)
ENST00000504881.1:n.454T>G (SRFBP1)
ENST00000505593.5:n.151A>C (LOX)
ENST00000508067.1:c.203A>C (LOX)	ENSP00000427538.1:n.203A>C
ENST00000513319.5:n.168A>C (LOX)
ENST00000639739.2:c.*17A>C (LOX)	ENSP00000492324.2:n.*17A>C
XM_017009111.2:c.*132T>G (SRFBP1)	XP_016864600.2:n.*132T>G