Canonical Allele Identifier: CA360880232

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405802C>T (hg19) ; chr5:g.122070107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070107C>T , CM000667.2:g.122070107C>T	GRCh38
NC_000005.9:g.121405802C>T , CM000667.1:g.121405802C>T	GRCh37
NC_000005.8:g.121433701C>T	NCBI36
NG_008722.1:g.13254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1193G>A (LOX) MANE Select	ENSP00000231004.4:p.Cys398Tyr
ENST00000639739.2:c.*385G>A (LOX)	ENSP00000492324.2:n.*385G>A
ENST00000231004.4:c.1193G>A (LOX)	ENSP00000231004.4:p.Cys398Tyr
ENST00000503759.5:n.784G>A (LOX)
ENST00000504881.1:n.312-5208C>T (SRFBP1)
ENST00000505593.5:n.519G>A (LOX)
ENST00000513319.5:n.536G>A (LOX)
NM_001178102.1:c.503G>A (LOX)	NP_001171573.1:p.Cys168Tyr
NM_001178102.2:c.503G>A (LOX)	NP_001171573.1:p.Cys168Tyr
NM_001317073.1:c.302G>A (LOX)	NP_001304002.1:p.Cys101Tyr
NM_002317.5:c.1193G>A (LOX)	NP_002308.2:p.Cys398Tyr
NM_002317.6:c.1193G>A (LOX)	NP_002308.2:p.Cys398Tyr
XM_017009111.2:c.1106-5208C>T (SRFBP1)	XP_016864600.2:n.1106-5208C>T
NM_002317.7:c.1193G>A (LOX) MANE Select	NP_002308.2:p.Cys398Tyr