Canonical Allele Identifier: CA360880362

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070165-T-A
• MyVariant Identifiers: chr5:g.121405860T>A (hg19) ; chr5:g.122070165T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070165T>A , CM000667.2:g.122070165T>A	GRCh38
NC_000005.9:g.121405860T>A , CM000667.1:g.121405860T>A	GRCh37
NC_000005.8:g.121433759T>A	NCBI36
NG_008722.1:g.13196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1135A>T (LOX) MANE Select	ENSP00000231004.4:p.Ser379Cys
ENST00000639739.2:c.*327A>T (LOX)	ENSP00000492324.2:n.*327A>T
ENST00000231004.4:c.1135A>T (LOX)	ENSP00000231004.4:p.Ser379Cys
ENST00000503759.5:n.726A>T (LOX)
ENST00000504881.1:n.312-5150T>A (SRFBP1)
ENST00000505593.5:n.461A>T (LOX)
ENST00000513319.5:n.478A>T (LOX)
NM_001178102.1:c.445A>T (LOX)	NP_001171573.1:p.Ser149Cys
NM_001178102.2:c.445A>T (LOX)	NP_001171573.1:p.Ser149Cys
NM_001317073.1:c.244A>T (LOX)	NP_001304002.1:p.Ser82Cys
NM_002317.5:c.1135A>T (LOX)	NP_002308.2:p.Ser379Cys
NM_002317.6:c.1135A>T (LOX)	NP_002308.2:p.Ser379Cys
XM_017009111.2:c.1106-5150T>A (SRFBP1)	XP_016864600.2:n.1106-5150T>A
NM_002317.7:c.1135A>T (LOX) MANE Select	NP_002308.2:p.Ser379Cys