Canonical Allele Identifier: CA343578111

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179882845C>T , CM000663.2:g.179882845C>T	GRCh38
NC_000001.10:g.179851980C>T , CM000663.1:g.179851980C>T	GRCh37
NC_000001.9:g.178118603C>T	NCBI36
NG_042316.1:g.5804C>T
NG_053185.1:g.770G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.343C>T MANE Select	NP_056417.2:p.Arg115Ter
ENST00000606911.7:c.343C>T MANE Select	ENSP00000476687.1:p.Arg115Ter
NM_001267578.1:c.343C>T	NP_001254507.1:p.Arg115Ter
NM_001267578.2:c.343C>T	NP_001254507.1:p.Arg115Ter
NM_015602.3:c.343C>T	NP_056417.2:p.Arg115Ter
ENST00000271583.7:c.343C>T	ENSP00000271583.3:p.Arg115Ter
ENST00000435319.8:c.-21C>T	ENSP00000393292.3:n.-21C>T
ENST00000528443.6:c.343C>T	ENSP00000435365.2:p.Arg115Ter
ENST00000531630.6:c.52C>T	ENSP00000434316.2:p.Arg18Ter
ENST00000606911.6:c.343C>T	ENSP00000476687.1:p.Arg115Ter
XM_011509403.1:c.343C>T	XP_011507705.1:p.Arg115Ter
XM_011509403.2:c.343C>T	XP_011507705.1:p.Arg115Ter
XM_011509404.1:c.343C>T	XP_011507706.1:p.Arg115Ter
XM_011509404.2:c.343C>T	XP_011507706.1:p.Arg115Ter