Canonical Allele Identifier: CA33715198

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179889342C>T , CM000663.2:g.179889342C>T	GRCh38
NC_000001.10:g.179858477C>T , CM000663.1:g.179858477C>T	GRCh37
NC_000001.9:g.178125100C>T	NCBI36
NG_042316.1:g.12301C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.583C>T MANE Select	NP_056417.2:p.Arg195Ter
ENST00000606911.7:c.583C>T MANE Select	ENSP00000476687.1:p.Arg195Ter
NM_001267578.1:c.586C>T	NP_001254507.1:p.Arg196Ter
NM_001267578.2:c.586C>T	NP_001254507.1:p.Arg196Ter
NM_015602.3:c.583C>T	NP_056417.2:p.Arg195Ter
ENST00000271583.7:c.586C>T	ENSP00000271583.3:p.Arg196Ter
ENST00000435319.8:c.220C>T	ENSP00000393292.3:p.Arg74Ter
ENST00000474875.5:n.175C>T
ENST00000524653.1:n.152C>T
ENST00000527391.5:c.212C>T
ENST00000527867.5:n.331C>T
ENST00000528443.6:c.586C>T	ENSP00000435365.2:p.Arg196Ter
ENST00000529091.5:c.374C>T
ENST00000531630.6:c.292C>T	ENSP00000434316.2:p.Arg98Ter
ENST00000531726.5:n.172C>T
ENST00000606911.6:c.583C>T	ENSP00000476687.1:p.Arg195Ter
XM_011509403.1:c.586C>T	XP_011507705.1:p.Arg196Ter
XM_011509403.2:c.586C>T	XP_011507705.1:p.Arg196Ter
XM_011509404.1:c.583C>T	XP_011507706.1:p.Arg195Ter
XM_011509404.2:c.583C>T	XP_011507706.1:p.Arg195Ter
XM_024446305.1:c.-318C>T	XP_024302073.1:n.-318C>T