Canonical Allele Identifier: CA360880323

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 2825947
• ClinVar RCV Id: RCV003681193
• dbSNP Id: rs1339063541
• gnomAD v2: 5-121405844-T-A
• gnomAD v4: 5-122070149-T-A
• MyVariant Identifiers: chr5:g.121405844T>A (hg19) ; chr5:g.122070149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070149T>A , CM000667.2:g.122070149T>A	GRCh38
NC_000005.9:g.121405844T>A , CM000667.1:g.121405844T>A	GRCh37
NC_000005.8:g.121433743T>A	NCBI36
NG_008722.1:g.13212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1151A>T (LOX) MANE Select	ENSP00000231004.4:p.Tyr384Phe
ENST00000639739.2:c.*343A>T (LOX)	ENSP00000492324.2:n.*343A>T
ENST00000231004.4:c.1151A>T (LOX)	ENSP00000231004.4:p.Tyr384Phe
ENST00000503759.5:n.742A>T (LOX)
ENST00000504881.1:n.312-5166T>A (SRFBP1)
ENST00000505593.5:n.477A>T (LOX)
ENST00000513319.5:n.494A>T (LOX)
NM_001178102.1:c.461A>T (LOX)	NP_001171573.1:p.Tyr154Phe
NM_001178102.2:c.461A>T (LOX)	NP_001171573.1:p.Tyr154Phe
NM_001317073.1:c.260A>T (LOX)	NP_001304002.1:p.Tyr87Phe
NM_002317.5:c.1151A>T (LOX)	NP_002308.2:p.Tyr384Phe
NM_002317.6:c.1151A>T (LOX)	NP_002308.2:p.Tyr384Phe
XM_017009111.2:c.1106-5166T>A (SRFBP1)	XP_016864600.2:n.1106-5166T>A
NM_002317.7:c.1151A>T (LOX) MANE Select	NP_002308.2:p.Tyr384Phe