Canonical Allele Identifier: CA3383816

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs752296113
• ExAC: 5:121405782 G / A
• gnomAD v2: 5-121405782-G-A
• MyVariant Identifiers: chr5:g.121405782G>A (hg19) ; chr5:g.122070087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070087G>A , CM000667.2:g.122070087G>A	GRCh38
NC_000005.9:g.121405782G>A , CM000667.1:g.121405782G>A	GRCh37
NC_000005.8:g.121433681G>A	NCBI36
NG_008722.1:g.13274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1213C>T (LOX) MANE Select	ENSP00000231004.4:p.His405Tyr
ENST00000639739.2:c.*405C>T (LOX)	ENSP00000492324.2:n.*405C>T
ENST00000231004.4:c.1213C>T (LOX)	ENSP00000231004.4:p.His405Tyr
ENST00000503759.5:n.804C>T (LOX)
ENST00000504881.1:n.312-5228G>A (SRFBP1)
ENST00000505593.5:n.539C>T (LOX)
ENST00000513319.5:n.556C>T (LOX)
NM_001178102.1:c.523C>T (LOX)	NP_001171573.1:p.His175Tyr
NM_001178102.2:c.523C>T (LOX)	NP_001171573.1:p.His175Tyr
NM_001317073.1:c.322C>T (LOX)	NP_001304002.1:p.His108Tyr
NM_002317.5:c.1213C>T (LOX)	NP_002308.2:p.His405Tyr
NM_002317.6:c.1213C>T (LOX)	NP_002308.2:p.His405Tyr
XM_017009111.2:c.1106-5228G>A (SRFBP1)	XP_016864600.2:n.1106-5228G>A
NM_002317.7:c.1213C>T (LOX) MANE Select	NP_002308.2:p.His405Tyr