Canonical Allele Identifier: CA33712211

Gene: TOR1AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179882651C>A , CM000663.2:g.179882651C>A	GRCh38
NC_000001.10:g.179851786C>A , CM000663.1:g.179851786C>A	GRCh37
NC_000001.9:g.178118409C>A	NCBI36
NG_042316.1:g.5610C>A
NG_053185.1:g.964G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015602.4:c.149C>A MANE Select	NP_056417.2:p.Ser50Ter
ENST00000606911.7:c.149C>A MANE Select	ENSP00000476687.1:p.Ser50Ter
NM_001267578.1:c.149C>A	NP_001254507.1:p.Ser50Ter
NM_001267578.2:c.149C>A	NP_001254507.1:p.Ser50Ter
NM_015602.3:c.149C>A	NP_056417.2:p.Ser50Ter
ENST00000271583.7:c.149C>A	ENSP00000271583.3:p.Ser50Ter
ENST00000528443.6:c.149C>A	ENSP00000435365.2:p.Ser50Ter
ENST00000606911.6:c.149C>A	ENSP00000476687.1:p.Ser50Ter
XM_011509403.1:c.149C>A	XP_011507705.1:p.Ser50Ter
XM_011509403.2:c.149C>A	XP_011507705.1:p.Ser50Ter
XM_011509404.1:c.149C>A	XP_011507706.1:p.Ser50Ter
XM_011509404.2:c.149C>A	XP_011507706.1:p.Ser50Ter