Canonical Allele Identifier: CA1268727

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179882863G>A , CM000663.2:g.179882863G>A	GRCh38
NC_000001.10:g.179851998G>A , CM000663.1:g.179851998G>A	GRCh37
NC_000001.9:g.178118621G>A	NCBI36
NG_042316.1:g.5822G>A
NG_053185.1:g.752C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.361G>A MANE Select	NP_056417.2:p.Glu121Lys
ENST00000606911.7:c.361G>A MANE Select	ENSP00000476687.1:p.Glu121Lys
NM_001267578.1:c.361G>A	NP_001254507.1:p.Glu121Lys
NM_001267578.2:c.361G>A	NP_001254507.1:p.Glu121Lys
NM_015602.3:c.361G>A	NP_056417.2:p.Glu121Lys
ENST00000271583.7:c.361G>A	ENSP00000271583.3:p.Glu121Lys
ENST00000435319.8:c.-3G>A	ENSP00000393292.3:n.-3G>A
ENST00000528443.6:c.361G>A	ENSP00000435365.2:p.Glu121Lys
ENST00000531630.6:c.70G>A	ENSP00000434316.2:p.Glu24Lys
ENST00000606911.6:c.361G>A	ENSP00000476687.1:p.Glu121Lys
XM_011509403.1:c.361G>A	XP_011507705.1:p.Glu121Lys
XM_011509403.2:c.361G>A	XP_011507705.1:p.Glu121Lys
XM_011509404.1:c.361G>A	XP_011507706.1:p.Glu121Lys
XM_011509404.2:c.361G>A	XP_011507706.1:p.Glu121Lys