Canonical Allele Identifier: CA360880261

Gene: LOX SRFBP1

Linked Data

• MyVariant Identifiers: chr5:g.121405816G>T (hg19) ; chr5:g.122070121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070121G>T , CM000667.2:g.122070121G>T	GRCh38
NC_000005.9:g.121405816G>T , CM000667.1:g.121405816G>T	GRCh37
NC_000005.8:g.121433715G>T	NCBI36
NG_008722.1:g.13240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1179C>A (LOX) MANE Select	ENSP00000231004.4:p.Asn393Lys
ENST00000639739.2:c.*371C>A (LOX)	ENSP00000492324.2:n.*371C>A
ENST00000231004.4:c.1179C>A (LOX)	ENSP00000231004.4:p.Asn393Lys
ENST00000503759.5:n.770C>A (LOX)
ENST00000504881.1:n.312-5194G>T (SRFBP1)
ENST00000505593.5:n.505C>A (LOX)
ENST00000513319.5:n.522C>A (LOX)
NM_001178102.1:c.489C>A (LOX)	NP_001171573.1:p.Asn163Lys
NM_001178102.2:c.489C>A (LOX)	NP_001171573.1:p.Asn163Lys
NM_001317073.1:c.288C>A (LOX)	NP_001304002.1:p.Asn96Lys
NM_002317.5:c.1179C>A (LOX)	NP_002308.2:p.Asn393Lys
NM_002317.6:c.1179C>A (LOX)	NP_002308.2:p.Asn393Lys
XM_017009111.2:c.1106-5194G>T (SRFBP1)	XP_016864600.2:n.1106-5194G>T
NM_002317.7:c.1179C>A (LOX) MANE Select	NP_002308.2:p.Asn393Lys