Canonical Allele Identifier: CA3383822

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 1434346
• ClinVar RCV Id: RCV001984615 ; RCV003130621 ; RCV002334927
• dbSNP Id: rs749796906
• ExAC: 5:121405805 C / T
• gnomAD v2: 5-121405805-C-T
• gnomAD v3: 5-122070110-C-T
• gnomAD v4: 5-122070110-C-T
• MyVariant Identifiers: chr5:g.121405805C>T (hg19) ; chr5:g.122070110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070110C>T , CM000667.2:g.122070110C>T	GRCh38
NC_000005.9:g.121405805C>T , CM000667.1:g.121405805C>T	GRCh37
NC_000005.8:g.121433704C>T	NCBI36
NG_008722.1:g.13251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1190G>A (LOX) MANE Select	ENSP00000231004.4:p.Arg397His
ENST00000639739.2:c.*382G>A (LOX)	ENSP00000492324.2:n.*382G>A
ENST00000231004.4:c.1190G>A (LOX)	ENSP00000231004.4:p.Arg397His
ENST00000503759.5:n.781G>A (LOX)
ENST00000504881.1:n.312-5205C>T (SRFBP1)
ENST00000505593.5:n.516G>A (LOX)
ENST00000513319.5:n.533G>A (LOX)
NM_001178102.1:c.500G>A (LOX)	NP_001171573.1:p.Arg167His
NM_001178102.2:c.500G>A (LOX)	NP_001171573.1:p.Arg167His
NM_001317073.1:c.299G>A (LOX)	NP_001304002.1:p.Arg100His
NM_002317.5:c.1190G>A (LOX)	NP_002308.2:p.Arg397His
NM_002317.6:c.1190G>A (LOX)	NP_002308.2:p.Arg397His
XM_017009111.2:c.1106-5205C>T (SRFBP1)	XP_016864600.2:n.1106-5205C>T
NM_002317.7:c.1190G>A (LOX) MANE Select	NP_002308.2:p.Arg397His