Canonical Allele Identifier: CA1268844

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179889339C>T , CM000663.2:g.179889339C>T	GRCh38
NC_000001.10:g.179858474C>T , CM000663.1:g.179858474C>T	GRCh37
NC_000001.9:g.178125097C>T	NCBI36
NG_042316.1:g.12298C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.580C>T MANE Select	NP_056417.2:p.Arg194Cys
ENST00000606911.7:c.580C>T MANE Select	ENSP00000476687.1:p.Arg194Cys
NM_001267578.1:c.583C>T	NP_001254507.1:p.Arg195Cys
NM_001267578.2:c.583C>T	NP_001254507.1:p.Arg195Cys
NM_015602.3:c.580C>T	NP_056417.2:p.Arg194Cys
ENST00000271583.7:c.583C>T	ENSP00000271583.3:p.Arg195Cys
ENST00000435319.8:c.217C>T	ENSP00000393292.3:p.Arg73Cys
ENST00000474875.5:n.172C>T
ENST00000524653.1:n.149C>T
ENST00000527391.5:c.209C>T
ENST00000527867.5:n.328C>T
ENST00000528443.6:c.583C>T	ENSP00000435365.2:p.Arg195Cys
ENST00000529091.5:c.371C>T
ENST00000531630.6:c.289C>T	ENSP00000434316.2:p.Arg97Cys
ENST00000531726.5:n.169C>T
ENST00000606911.6:c.580C>T	ENSP00000476687.1:p.Arg194Cys
XM_011509403.1:c.583C>T	XP_011507705.1:p.Arg195Cys
XM_011509403.2:c.583C>T	XP_011507705.1:p.Arg195Cys
XM_011509404.1:c.580C>T	XP_011507706.1:p.Arg194Cys
XM_011509404.2:c.580C>T	XP_011507706.1:p.Arg194Cys
XM_024446305.1:c.-321C>T	XP_024302073.1:n.-321C>T