Canonical Allele Identifier: CA1268816

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179884745G>A , CM000663.2:g.179884745G>A	GRCh38
NC_000001.10:g.179853880G>A , CM000663.1:g.179853880G>A	GRCh37
NC_000001.9:g.178120503G>A	NCBI36
NG_042316.1:g.7704G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.529G>A MANE Select	NP_056417.2:p.Val177Ile
ENST00000606911.7:c.529G>A MANE Select	ENSP00000476687.1:p.Val177Ile
NM_001267578.1:c.529G>A	NP_001254507.1:p.Val177Ile
NM_001267578.2:c.529G>A	NP_001254507.1:p.Val177Ile
NM_015602.3:c.529G>A	NP_056417.2:p.Val177Ile
ENST00000271583.7:c.529G>A	ENSP00000271583.3:p.Val177Ile
ENST00000435319.8:c.166G>A	ENSP00000393292.3:p.Val56Ile
ENST00000474875.5:n.121G>A
ENST00000524653.1:n.98G>A
ENST00000527391.5:c.158G>A
ENST00000527867.5:n.146G>A
ENST00000528443.6:c.529G>A	ENSP00000435365.2:p.Val177Ile
ENST00000529091.5:c.320G>A
ENST00000531630.6:c.238G>A	ENSP00000434316.2:p.Val80Ile
ENST00000531726.5:n.115G>A
ENST00000606911.6:c.529G>A	ENSP00000476687.1:p.Val177Ile
XM_011509403.1:c.529G>A	XP_011507705.1:p.Val177Ile
XM_011509403.2:c.529G>A	XP_011507705.1:p.Val177Ile
XM_011509404.1:c.529G>A	XP_011507706.1:p.Val177Ile
XM_011509404.2:c.529G>A	XP_011507706.1:p.Val177Ile
XM_024446305.1:c.-372G>A	XP_024302073.1:n.-372G>A