Canonical Allele Identifier: CA1268881

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179900161G>T , CM000663.2:g.179900161G>T	GRCh38
NC_000001.10:g.179869296G>T , CM000663.1:g.179869296G>T	GRCh37
NC_000001.9:g.178135919G>T	NCBI36
NG_042316.1:g.23120G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.646G>T MANE Select	NP_056417.2:p.Glu216Ter
ENST00000606911.7:c.646G>T MANE Select	ENSP00000476687.1:p.Glu216Ter
NM_001267578.1:c.649G>T	NP_001254507.1:p.Glu217Ter
NM_001267578.2:c.649G>T	NP_001254507.1:p.Glu217Ter
NM_015602.3:c.646G>T	NP_056417.2:p.Glu216Ter
ENST00000271583.7:c.649G>T	ENSP00000271583.3:p.Glu217Ter
ENST00000435319.8:c.283G>T	ENSP00000393292.3:p.Glu95Ter
ENST00000474875.5:n.238G>T
ENST00000524653.1:n.215G>T
ENST00000527391.5:c.275G>T
ENST00000527867.5:n.394G>T
ENST00000528443.6:c.649G>T	ENSP00000435365.2:p.Glu217Ter
ENST00000529091.5:c.437G>T
ENST00000531630.6:c.320-1141G>T	ENSP00000434316.2:n.320-1141G>T
ENST00000531726.5:n.235G>T
ENST00000606911.6:c.646G>T	ENSP00000476687.1:p.Glu216Ter
XM_011509403.1:c.649G>T	XP_011507705.1:p.Glu217Ter
XM_011509403.2:c.649G>T	XP_011507705.1:p.Glu217Ter
XM_011509404.1:c.646G>T	XP_011507706.1:p.Glu216Ter
XM_011509404.2:c.646G>T	XP_011507706.1:p.Glu216Ter
XM_024446305.1:c.-255G>T	XP_024302073.1:n.-255G>T