Canonical Allele Identifier: CA343566595

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179903989C>T , CM000663.2:g.179903989C>T	GRCh38
NC_000001.10:g.179873124C>T , CM000663.1:g.179873124C>T	GRCh37
NC_000001.9:g.178139747C>T	NCBI36
NG_042316.1:g.26948C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.763C>T MANE Select	NP_056417.2:p.Gln255Ter
ENST00000606911.7:c.763C>T MANE Select	ENSP00000476687.1:p.Gln255Ter
NM_001267578.1:c.766C>T	NP_001254507.1:p.Gln256Ter
NM_001267578.2:c.766C>T	NP_001254507.1:p.Gln256Ter
NM_015602.3:c.763C>T	NP_056417.2:p.Gln255Ter
ENST00000271583.7:c.766C>T	ENSP00000271583.3:p.Gln256Ter
ENST00000435319.8:c.400C>T	ENSP00000393292.3:p.Gln134Ter
ENST00000447964.1:c.24C>T
ENST00000474875.5:n.355C>T
ENST00000524653.1:n.332C>T
ENST00000527391.5:c.392C>T
ENST00000528443.6:c.766C>T	ENSP00000435365.2:p.Gln256Ter
ENST00000529091.5:c.554C>T
ENST00000531630.6:c.430C>T	ENSP00000434316.2:p.Gln144Ter
ENST00000531726.5:n.352C>T
ENST00000606911.6:c.763C>T	ENSP00000476687.1:p.Gln255Ter
XM_011509403.1:c.766C>T	XP_011507705.1:p.Gln256Ter
XM_011509403.2:c.766C>T	XP_011507705.1:p.Gln256Ter
XM_011509404.1:c.763C>T	XP_011507706.1:p.Gln255Ter
XM_011509404.2:c.763C>T	XP_011507706.1:p.Gln255Ter
XM_024446305.1:c.-138C>T	XP_024302073.1:n.-138C>T