Canonical Allele Identifier: CA125945985

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs3835066
• MyVariant Identifiers: chr5:g.121406077del (hg19) ; chr5:g.122070382del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070384del , CM000667.2:g.122070384del	GRCh38
NC_000005.9:g.121406079del , CM000667.1:g.121406079del	GRCh37
NC_000005.8:g.121433978del	NCBI36
NG_008722.1:g.12979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+112del (LOX) MANE Select	ENSP00000231004.4:n.1131+112del
ENST00000639739.2:c.*323+112del (LOX)	ENSP00000492324.2:n.*323+112del
ENST00000231004.4:c.1131+112del (LOX)	ENSP00000231004.4:n.1131+112del
ENST00000503759.5:n.722+112del (LOX)
ENST00000504881.1:n.312-4931del (SRFBP1)
ENST00000505593.5:n.457+112del (LOX)
ENST00000513319.5:n.474+112del (LOX)
NM_001178102.1:c.441+112del (LOX)	NP_001171573.1:n.441+112del
NM_001178102.2:c.441+112del (LOX)	NP_001171573.1:n.441+112del
NM_001317073.1:c.240+112del (LOX)	NP_001304002.1:n.240+112del
NM_002317.5:c.1131+112del (LOX)	NP_002308.2:n.1131+112del
NM_002317.6:c.1131+112del (LOX)	NP_002308.2:n.1131+112del
XM_017009111.2:c.1106-4931del (SRFBP1)	XP_016864600.2:n.1106-4931del
NM_002317.7:c.1131+112del (LOX) MANE Select	NP_002308.2:n.1131+112del