Canonical Allele Identifier: CA174750

Gene: BEND5 AGBL4

Linked Data

• ClinVar Variation Id: 161769
• ClinVar RCV Id: RCV000149305
• dbSNP Id: rs193921115
• COSMIC: COSM1179461 ; COSM1179462
• MyVariant Identifiers: chr1:g.49193614T>C (hg19) ; chr1:g.48727942T>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.48727942T>C , CM000663.2:g.48727942T>C	GRCh38
NC_000001.10:g.49193614T>C , CM000663.1:g.49193614T>C	GRCh37
NC_000001.9:g.48966201T>C	NCBI36
NG_053063.1:g.55662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371833.4:c.1210A>G (BEND5) MANE Select	ENSP00000360899.3:p.Ile404Val
ENST00000371839.6:c.635-64701A>G (AGBL4) MANE Select	ENSP00000360905.1:n.635-64701A>G
ENST00000371833.3:c.1210A>G (BEND5)	ENSP00000360899.3:p.Ile404Val
ENST00000371838.5:c.635-64701A>G (AGBL4)	ENSP00000360904.1:n.635-64701A>G
ENST00000371839.5:c.635-64701A>G (AGBL4)	ENSP00000360905.1:n.635-64701A>G
ENST00000416121.5:c.172-64701A>G (AGBL4)
ENST00000463562.1:n.1393A>G (BEND5)
ENST00000476079.5:n.350A>G (BEND5)
ENST00000476096.1:n.458A>G (BEND5)
NM_001302082.1:c.703A>G (BEND5)	NP_001289011.1:p.Ile235Val
NM_024603.3:c.1210A>G (BEND5)	NP_078879.2:p.Ile404Val
NM_032785.3:c.635-64701A>G (AGBL4)	NP_116174.3:n.635-64701A>G
XM_006710895.2:c.1048A>G (BEND5)	XP_006710958.1:p.Ile350Val
XM_006710897.2:c.703A>G (BEND5)	XP_006710960.1:p.Ile235Val
XM_006710986.2:c.635-64701A>G (AGBL4)	XP_006711049.1:n.635-64701A>G
XM_011542141.1:c.955A>G (BEND5)	XP_011540443.1:p.Ile319Val
XM_011542142.1:c.703A>G (BEND5)	XP_011540444.1:p.Ile235Val
XM_011542308.1:c.671-64701A>G (AGBL4)	XP_011540610.1:n.671-64701A>G
XM_011542309.1:c.671-64701A>G (AGBL4)	XP_011540611.1:n.671-64701A>G
NM_001323573.1:c.671-64701A>G (AGBL4)	NP_001310502.1:n.671-64701A>G
NM_001323574.1:c.671-64701A>G (AGBL4)	NP_001310503.1:n.671-64701A>G
NM_001323575.1:c.635-64701A>G (AGBL4)	NP_001310504.1:n.635-64701A>G
NM_001349793.1:c.703A>G (BEND5)	NP_001336722.1:p.Ile235Val
NM_001349794.1:c.703A>G (BEND5)	NP_001336723.1:p.Ile235Val
NM_001349795.1:c.955A>G (BEND5)	NP_001336724.1:p.Ile319Val
NR_136623.1:n.668-38039A>G (AGBL4)
NR_146232.1:n.1281A>G (BEND5)
XM_011542141.3:c.955A>G (BEND5)	XP_011540443.1:p.Ile319Val
XM_011542142.2:c.703A>G (BEND5)	XP_011540444.1:p.Ile235Val
XM_011542308.2:c.671-64701A>G (AGBL4)	XP_011540610.1:n.671-64701A>G
XM_017002331.1:c.1048A>G (BEND5)	XP_016857820.1:p.Ile350Val
XM_017002595.2:c.635-64701A>G (AGBL4)	XP_016858084.1:n.635-64701A>G
XM_017002596.2:c.635-64701A>G (AGBL4)	XP_016858085.1:n.635-64701A>G
XM_017002597.2:c.635-64701A>G (AGBL4)	XP_016858086.1:n.635-64701A>G
XR_001737408.2:n.1719A>G (BEND5)
NM_024603.4:c.1210A>G (BEND5) MANE Select	NP_078879.2:p.Ile404Val
NM_032785.4:c.635-64701A>G (AGBL4) MANE Select	NP_116174.3:n.635-64701A>G
NM_001323573.2:c.671-64701A>G (AGBL4)	NP_001310502.1:n.671-64701A>G
NM_001323574.2:c.671-64701A>G (AGBL4)	NP_001310503.1:n.671-64701A>G
NM_001323575.2:c.635-64701A>G (AGBL4)	NP_001310504.1:n.635-64701A>G
NR_136623.2:n.668-38039A>G (AGBL4)
NM_001302082.2:c.703A>G (BEND5)	NP_001289011.1:p.Ile235Val
NM_001349793.2:c.703A>G (BEND5)	NP_001336722.1:p.Ile235Val
NM_001349794.2:c.703A>G (BEND5)	NP_001336723.1:p.Ile235Val
NM_001349795.2:c.955A>G (BEND5)	NP_001336724.1:p.Ile319Val
NR_146232.2:n.1203A>G (BEND5)