Canonical Allele Identifier: CA343568533

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179907856C>G , CM000663.2:g.179907856C>G	GRCh38
NC_000001.10:g.179876991C>G , CM000663.1:g.179876991C>G	GRCh37
NC_000001.9:g.178143614C>G	NCBI36
NG_042316.1:g.30815C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.830C>G MANE Select	NP_056417.2:p.Ser277Ter
ENST00000606911.7:c.830C>G MANE Select	ENSP00000476687.1:p.Ser277Ter
NM_001267578.1:c.833C>G	NP_001254507.1:p.Ser278Ter
NM_001267578.2:c.833C>G	NP_001254507.1:p.Ser278Ter
NM_015602.3:c.830C>G	NP_056417.2:p.Ser277Ter
ENST00000271583.7:c.833C>G	ENSP00000271583.3:p.Ser278Ter
ENST00000435319.8:c.467C>G	ENSP00000393292.3:p.Ser156Ter
ENST00000447964.1:c.91C>G
ENST00000474875.5:n.422C>G
ENST00000524653.1:n.515C>G
ENST00000527391.5:c.459C>G
ENST00000528443.6:c.833C>G	ENSP00000435365.2:p.Ser278Ter
ENST00000531630.6:c.497C>G	ENSP00000434316.2:p.Ser166Ter
ENST00000606911.6:c.830C>G	ENSP00000476687.1:p.Ser277Ter
XM_011509403.1:c.833C>G	XP_011507705.1:p.Ser278Ter
XM_011509403.2:c.833C>G	XP_011507705.1:p.Ser278Ter
XM_011509404.1:c.830C>G	XP_011507706.1:p.Ser277Ter
XM_011509404.2:c.830C>G	XP_011507706.1:p.Ser277Ter
XM_024446305.1:c.-71C>G	XP_024302073.1:n.-71C>G