Canonical Allele Identifier: CA3383818

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 1376088
• ClinVar RCV Id: RCV001902594 ; RCV002343951
• dbSNP Id: rs554322205
• ExAC: 5:121405788 T / C
• gnomAD v2: 5-121405788-T-C
• gnomAD v3: 5-122070093-T-C
• gnomAD v4: 5-122070093-T-C
• MyVariant Identifiers: chr5:g.121405788T>C (hg19) ; chr5:g.122070093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070093T>C , CM000667.2:g.122070093T>C	GRCh38
NC_000005.9:g.121405788T>C , CM000667.1:g.121405788T>C	GRCh37
NC_000005.8:g.121433687T>C	NCBI36
NG_008722.1:g.13268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1207A>G (LOX) MANE Select	ENSP00000231004.4:p.Thr403Ala
ENST00000639739.2:c.*399A>G (LOX)	ENSP00000492324.2:n.*399A>G
ENST00000231004.4:c.1207A>G (LOX)	ENSP00000231004.4:p.Thr403Ala
ENST00000503759.5:n.798A>G (LOX)
ENST00000504881.1:n.312-5222T>C (SRFBP1)
ENST00000505593.5:n.533A>G (LOX)
ENST00000513319.5:n.550A>G (LOX)
NM_001178102.1:c.517A>G (LOX)	NP_001171573.1:p.Thr173Ala
NM_001178102.2:c.517A>G (LOX)	NP_001171573.1:p.Thr173Ala
NM_001317073.1:c.316A>G (LOX)	NP_001304002.1:p.Thr106Ala
NM_002317.5:c.1207A>G (LOX)	NP_002308.2:p.Thr403Ala
NM_002317.6:c.1207A>G (LOX)	NP_002308.2:p.Thr403Ala
XM_017009111.2:c.1106-5222T>C (SRFBP1)	XP_016864600.2:n.1106-5222T>C
NM_002317.7:c.1207A>G (LOX) MANE Select	NP_002308.2:p.Thr403Ala