Canonical Allele Identifier: CA1268693

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179882745G>C , CM000663.2:g.179882745G>C	GRCh38
NC_000001.10:g.179851880G>C , CM000663.1:g.179851880G>C	GRCh37
NC_000001.9:g.178118503G>C	NCBI36
NG_042316.1:g.5704G>C
NG_053185.1:g.870C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.243G>C MANE Select	NP_056417.2:p.Val81=
ENST00000606911.7:c.243G>C MANE Select	ENSP00000476687.1:p.Val81=
NM_001267578.1:c.243G>C	NP_001254507.1:p.Val81=
NM_001267578.2:c.243G>C	NP_001254507.1:p.Val81=
NM_015602.3:c.243G>C	NP_056417.2:p.Val81=
ENST00000271583.7:c.243G>C	ENSP00000271583.3:p.Val81=
ENST00000435319.8:c.-121G>C	ENSP00000393292.3:n.-121G>C
ENST00000528443.6:c.243G>C	ENSP00000435365.2:p.Val81=
ENST00000606911.6:c.243G>C	ENSP00000476687.1:p.Val81=
XM_011509403.1:c.243G>C	XP_011507705.1:p.Val81=
XM_011509403.2:c.243G>C	XP_011507705.1:p.Val81=
XM_011509404.1:c.243G>C	XP_011507706.1:p.Val81=
XM_011509404.2:c.243G>C	XP_011507706.1:p.Val81=