Canonical Allele Identifier: CA803031403

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs776080229
• gnomAD v4: 5-122070364-T-C
• MyVariant Identifiers: chr5:g.121406059T>C (hg19) ; chr5:g.122070364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070364T>C , CM000667.2:g.122070364T>C	GRCh38
NC_000005.9:g.121406059T>C , CM000667.1:g.121406059T>C	GRCh37
NC_000005.8:g.121433958T>C	NCBI36
NG_008722.1:g.12997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+130A>G (LOX) MANE Select	ENSP00000231004.4:n.1131+130A>G
ENST00000639739.2:c.*323+130A>G (LOX)	ENSP00000492324.2:n.*323+130A>G
ENST00000231004.4:c.1131+130A>G (LOX)	ENSP00000231004.4:n.1131+130A>G
ENST00000503759.5:n.722+130A>G (LOX)
ENST00000504881.1:n.312-4951T>C (SRFBP1)
ENST00000505593.5:n.457+130A>G (LOX)
ENST00000513319.5:n.474+130A>G (LOX)
NM_001178102.1:c.441+130A>G (LOX)	NP_001171573.1:n.441+130A>G
NM_001178102.2:c.441+130A>G (LOX)	NP_001171573.1:n.441+130A>G
NM_001317073.1:c.240+130A>G (LOX)	NP_001304002.1:n.240+130A>G
NM_002317.5:c.1131+130A>G (LOX)	NP_002308.2:n.1131+130A>G
NM_002317.6:c.1131+130A>G (LOX)	NP_002308.2:n.1131+130A>G
XM_017009111.2:c.1106-4951T>C (SRFBP1)	XP_016864600.2:n.1106-4951T>C
NM_002317.7:c.1131+130A>G (LOX) MANE Select	NP_002308.2:n.1131+130A>G