Canonical Allele Identifier: CA1269054

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179914051C>T , CM000663.2:g.179914051C>T	GRCh38
NC_000001.10:g.179883186C>T , CM000663.1:g.179883186C>T	GRCh37
NC_000001.9:g.178149809C>T	NCBI36
NG_042316.1:g.37010C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.961C>T MANE Select	NP_056417.2:p.Arg321Ter
ENST00000606911.7:c.961C>T MANE Select	ENSP00000476687.1:p.Arg321Ter
NM_001267578.1:c.964C>T	NP_001254507.1:p.Arg322Ter
NM_001267578.2:c.964C>T	NP_001254507.1:p.Arg322Ter
NM_015602.3:c.961C>T	NP_056417.2:p.Arg321Ter
ENST00000271583.7:c.1009C>T	ENSP00000271583.3:p.Arg337Ter
ENST00000435319.8:c.598C>T	ENSP00000393292.3:p.Arg200Ter
ENST00000447964.1:c.169-3401C>T
ENST00000474875.5:n.553C>T
ENST00000527391.5:c.590C>T
ENST00000528443.6:c.964C>T	ENSP00000435365.2:p.Arg322Ter
ENST00000606911.6:c.961C>T	ENSP00000476687.1:p.Arg321Ter
XM_011509403.1:c.1009C>T	XP_011507705.1:p.Arg337Ter
XM_011509403.2:c.1009C>T	XP_011507705.1:p.Arg337Ter
XM_011509404.1:c.1006C>T	XP_011507706.1:p.Arg336Ter
XM_011509404.2:c.1006C>T	XP_011507706.1:p.Arg336Ter
XM_024446305.1:c.106C>T	XP_024302073.1:p.Arg36Ter