Canonical Allele Identifier: CA3383920

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122075387G>C , CM000667.2:g.122075387G>C	GRCh38
NC_000005.9:g.121411082G>C , CM000667.1:g.121411082G>C	GRCh37
NC_000005.8:g.121438981G>C	NCBI36
NG_008722.1:g.7974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.878+17C>G (LOX) MANE Select	ENSP00000231004.4:n.878+17C>G
ENST00000639739.2:c.*70+17C>G (LOX)	ENSP00000492324.2:n.*70+17C>G
ENST00000231004.4:c.878+17C>G (LOX)	ENSP00000231004.4:n.878+17C>G
ENST00000503759.5:n.469+17C>G (LOX)
ENST00000504881.1:n.384G>C (SRFBP1)
ENST00000505593.5:n.204+17C>G (LOX)
ENST00000508067.1:c.256+17C>G (LOX)	ENSP00000427538.1:n.256+17C>G
ENST00000513319.5:n.221+17C>G (LOX)
NM_001178102.1:c.188+17C>G (LOX)	NP_001171573.1:n.188+17C>G
NM_001178102.2:c.188+17C>G (LOX)	NP_001171573.1:n.188+17C>G
NM_001317073.1:c.-14+17C>G (LOX)	NP_001304002.1:n.-14+17C>G
NM_002317.5:c.878+17C>G (LOX)	NP_002308.2:n.878+17C>G
NM_002317.6:c.878+17C>G (LOX)	NP_002308.2:n.878+17C>G
XM_017009111.2:c.*62G>C (SRFBP1)	XP_016864600.2:n.*62G>C
NM_002317.7:c.878+17C>G (LOX) MANE Select	NP_002308.2:n.878+17C>G