Canonical Allele Identifier: CA594586

Gene: AGTRAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11750100C>T , CM000663.2:g.11750100C>T	GRCh38
NC_000001.10:g.11810157C>T , CM000663.1:g.11810157C>T	GRCh37
NC_000001.9:g.11732744C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020350.5:c.388C>T MANE Select	NP_065083.3:p.Arg130Cys
ENST00000314340.10:c.388C>T MANE Select	ENSP00000319713.5:p.Arg130Cys
NM_001040194.1:c.367C>T	NP_001035284.1:p.Arg123Cys
NM_001040194.2:c.367C>T	NP_001035284.1:p.Arg123Cys
NM_001040195.1:c.332C>T	NP_001035285.1:p.Pro111Leu
NM_001040195.2:c.332C>T	NP_001035285.1:p.Pro111Leu
NM_001040196.1:c.464C>T	NP_001035286.1:p.Pro155Leu
NM_001040196.2:c.464C>T	NP_001035286.1:p.Pro155Leu
NM_001040197.1:c.*41C>T	NP_001035287.1:n.*41C>T
NM_001040197.2:c.*41C>T	NP_001035287.1:n.*41C>T
NM_020350.4:c.388C>T	NP_065083.3:p.Arg130Cys
ENST00000314340.9:c.388C>T	ENSP00000319713.5:p.Arg130Cys
ENST00000376627.6:c.*41C>T	ENSP00000365814.1:n.*41C>T
ENST00000376629.8:c.367C>T	ENSP00000365816.4:p.Arg123Cys
ENST00000376637.7:c.332C>T	ENSP00000365824.3:p.Pro111Leu
ENST00000400895.6:c.*41C>T	ENSP00000383688.2:n.*41C>T
ENST00000452018.6:c.464C>T	ENSP00000408505.2:p.Pro155Leu
ENST00000471765.1:n.254C>T
ENST00000476309.5:n.439C>T
ENST00000476512.5:c.*432C>T	ENSP00000424455.1:n.*432C>T
ENST00000491346.5:n.728C>T
ENST00000510878.1:c.282C>T	ENSP00000422647.1:p.Thr94=
ENST00000513739.5:n.541C>T
ENST00000514733.5:n.531C>T
XM_011541799.1:c.806C>T	XP_011540101.1:p.Pro269Leu
XM_011541799.3:c.403C>T	XP_011540101.2:p.Arg135Cys
XM_011541800.1:c.424C>T	XP_011540102.1:p.Arg142Cys
XM_011541800.3:c.424C>T	XP_011540102.1:p.Arg142Cys
XM_011541802.1:c.500C>T	XP_011540104.1:p.Pro167Leu
XM_011541802.2:c.500C>T	XP_011540104.1:p.Pro167Leu