Canonical Allele Identifier: CA360880304

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 3007540
• ClinVar RCV Id: RCV003864139
• MyVariant Identifiers: chr5:g.121405835G>A (hg19) ; chr5:g.122070140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070140G>A , CM000667.2:g.122070140G>A	GRCh38
NC_000005.9:g.121405835G>A , CM000667.1:g.121405835G>A	GRCh37
NC_000005.8:g.121433734G>A	NCBI36
NG_008722.1:g.13221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1160C>T (LOX) MANE Select	ENSP00000231004.4:p.Pro387Leu
ENST00000639739.2:c.*352C>T (LOX)	ENSP00000492324.2:n.*352C>T
ENST00000231004.4:c.1160C>T (LOX)	ENSP00000231004.4:p.Pro387Leu
ENST00000503759.5:n.751C>T (LOX)
ENST00000504881.1:n.312-5175G>A (SRFBP1)
ENST00000505593.5:n.486C>T (LOX)
ENST00000513319.5:n.503C>T (LOX)
NM_001178102.1:c.470C>T (LOX)	NP_001171573.1:p.Pro157Leu
NM_001178102.2:c.470C>T (LOX)	NP_001171573.1:p.Pro157Leu
NM_001317073.1:c.269C>T (LOX)	NP_001304002.1:p.Pro90Leu
NM_002317.5:c.1160C>T (LOX)	NP_002308.2:p.Pro387Leu
NM_002317.6:c.1160C>T (LOX)	NP_002308.2:p.Pro387Leu
XM_017009111.2:c.1106-5175G>A (SRFBP1)	XP_016864600.2:n.1106-5175G>A
NM_002317.7:c.1160C>T (LOX) MANE Select	NP_002308.2:p.Pro387Leu