Canonical Allele Identifier: CA1268811

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179884709C>G , CM000663.2:g.179884709C>G	GRCh38
NC_000001.10:g.179853844C>G , CM000663.1:g.179853844C>G	GRCh37
NC_000001.9:g.178120467C>G	NCBI36
NG_042316.1:g.7668C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.493C>G MANE Select	NP_056417.2:p.Gln165Glu
ENST00000606911.7:c.493C>G MANE Select	ENSP00000476687.1:p.Gln165Glu
NM_001267578.1:c.493C>G	NP_001254507.1:p.Gln165Glu
NM_001267578.2:c.493C>G	NP_001254507.1:p.Gln165Glu
NM_015602.3:c.493C>G	NP_056417.2:p.Gln165Glu
ENST00000271583.7:c.493C>G	ENSP00000271583.3:p.Gln165Glu
ENST00000435319.8:c.130C>G	ENSP00000393292.3:p.Gln44Glu
ENST00000474875.5:n.85C>G
ENST00000524653.1:n.62C>G
ENST00000527391.5:c.122C>G
ENST00000527867.5:n.110C>G
ENST00000528443.6:c.493C>G	ENSP00000435365.2:p.Gln165Glu
ENST00000529091.5:c.284C>G
ENST00000531630.6:c.202C>G	ENSP00000434316.2:p.Gln68Glu
ENST00000531726.5:n.79C>G
ENST00000606911.6:c.493C>G	ENSP00000476687.1:p.Gln165Glu
XM_011509403.1:c.493C>G	XP_011507705.1:p.Gln165Glu
XM_011509403.2:c.493C>G	XP_011507705.1:p.Gln165Glu
XM_011509404.1:c.493C>G	XP_011507706.1:p.Gln165Glu
XM_011509404.2:c.493C>G	XP_011507706.1:p.Gln165Glu
XM_024446305.1:c.-408C>G	XP_024302073.1:n.-408C>G