Canonical Allele Identifier: CA562298835

Gene: LOX SRFBP1

Linked Data

• dbSNP Id: rs1414227605
• gnomAD v2: 5-121405994-C-T
• gnomAD v3: 5-122070299-C-T
• gnomAD v4: 5-122070299-C-T
• MyVariant Identifiers: chr5:g.121405994C>T (hg19) ; chr5:g.122070299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070299C>T , CM000667.2:g.122070299C>T	GRCh38
NC_000005.9:g.121405994C>T , CM000667.1:g.121405994C>T	GRCh37
NC_000005.8:g.121433893C>T	NCBI36
NG_008722.1:g.13062G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.1132-131G>A (LOX) MANE Select	ENSP00000231004.4:n.1132-131G>A
ENST00000639739.2:c.*324-131G>A (LOX)	ENSP00000492324.2:n.*324-131G>A
ENST00000231004.4:c.1132-131G>A (LOX)	ENSP00000231004.4:n.1132-131G>A
ENST00000503759.5:n.723-131G>A (LOX)
ENST00000504881.1:n.312-5016C>T (SRFBP1)
ENST00000505593.5:n.458-131G>A (LOX)
ENST00000513319.5:n.475-131G>A (LOX)
NM_001178102.1:c.442-131G>A (LOX)	NP_001171573.1:n.442-131G>A
NM_001178102.2:c.442-131G>A (LOX)	NP_001171573.1:n.442-131G>A
NM_001317073.1:c.241-131G>A (LOX)	NP_001304002.1:n.241-131G>A
NM_002317.5:c.1132-131G>A (LOX)	NP_002308.2:n.1132-131G>A
NM_002317.6:c.1132-131G>A (LOX)	NP_002308.2:n.1132-131G>A
XM_017009111.2:c.1106-5016C>T (SRFBP1)	XP_016864600.2:n.1106-5016C>T
NM_002317.7:c.1132-131G>A (LOX) MANE Select	NP_002308.2:n.1132-131G>A