Canonical Allele Identifier: CA360880309

Gene: LOX SRFBP1

Linked Data

• ClinVar Variation Id: 1481879
• ClinVar RCV Id: RCV001994309
• dbSNP Id: rs1561417251
• MyVariant Identifiers: chr5:g.121405836G>C (hg19) ; chr5:g.122070141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070141G>C , CM000667.2:g.122070141G>C	GRCh38
NC_000005.9:g.121405836G>C , CM000667.1:g.121405836G>C	GRCh37
NC_000005.8:g.121433735G>C	NCBI36
NG_008722.1:g.13220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1159C>G (LOX) MANE Select	ENSP00000231004.4:p.Pro387Ala
ENST00000639739.2:c.*351C>G (LOX)	ENSP00000492324.2:n.*351C>G
ENST00000231004.4:c.1159C>G (LOX)	ENSP00000231004.4:p.Pro387Ala
ENST00000503759.5:n.750C>G (LOX)
ENST00000504881.1:n.312-5174G>C (SRFBP1)
ENST00000505593.5:n.485C>G (LOX)
ENST00000513319.5:n.502C>G (LOX)
NM_001178102.1:c.469C>G (LOX)	NP_001171573.1:p.Pro157Ala
NM_001178102.2:c.469C>G (LOX)	NP_001171573.1:p.Pro157Ala
NM_001317073.1:c.268C>G (LOX)	NP_001304002.1:p.Pro90Ala
NM_002317.5:c.1159C>G (LOX)	NP_002308.2:p.Pro387Ala
NM_002317.6:c.1159C>G (LOX)	NP_002308.2:p.Pro387Ala
XM_017009111.2:c.1106-5174G>C (SRFBP1)	XP_016864600.2:n.1106-5174G>C
NM_002317.7:c.1159C>G (LOX) MANE Select	NP_002308.2:p.Pro387Ala