Canonical Allele Identifier: CA360880238

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405805C>G (hg19) ; chr5:g.122070110C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1190G>C (LOX) MANE Select	ENSP00000231004.4:p.Arg397Pro
ENST00000639739.2:c.*382G>C (LOX)	ENSP00000492324.2:n.*382G>C
ENST00000231004.4:c.1190G>C (LOX)	ENSP00000231004.4:p.Arg397Pro
ENST00000503759.5:n.781G>C (LOX)
ENST00000504881.1:n.312-5205C>G (SRFBP1)
ENST00000505593.5:n.516G>C (LOX)
ENST00000513319.5:n.533G>C (LOX)
NM_001178102.1:c.500G>C (LOX)	NP_001171573.1:p.Arg167Pro
NM_001178102.2:c.500G>C (LOX)	NP_001171573.1:p.Arg167Pro
NM_001317073.1:c.299G>C (LOX)	NP_001304002.1:p.Arg100Pro
NM_002317.5:c.1190G>C (LOX)	NP_002308.2:p.Arg397Pro
NM_002317.6:c.1190G>C (LOX)	NP_002308.2:p.Arg397Pro
XM_017009111.2:c.1106-5205C>G (SRFBP1)	XP_016864600.2:n.1106-5205C>G
NM_002317.7:c.1190G>C (LOX) MANE Select	NP_002308.2:p.Arg397Pro