Canonical Allele Identifier: CA1268970
Community Standard Title: NM_015602.4(TOR1AIP1):c.838+2T>A
Gene: TOR1AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179907866T>A , CM000663.2:g.179907866T>A GRCh38
NC_000001.10:g.179877001T>A , CM000663.1:g.179877001T>A GRCh37
NC_000001.9:g.178143624T>A NCBI36
NG_042316.1:g.30825T>A

Transcript Alleles

HGVS Amino-acid Change
NM_015602.4:c.838+2T>A MANE Select NP_056417.2:n.838+2T>A
ENST00000606911.7:c.838+2T>A MANE Select ENSP00000476687.1:n.838+2T>A
NM_001267578.1:c.841+2T>A NP_001254507.1:n.841+2T>A
NM_001267578.2:c.841+2T>A NP_001254507.1:n.841+2T>A
NM_015602.3:c.838+2T>A NP_056417.2:n.838+2T>A
ENST00000271583.7:c.841+2T>A ENSP00000271583.3:n.841+2T>A
ENST00000435319.8:c.475+2T>A ENSP00000393292.3:n.475+2T>A
ENST00000447964.1:c.99+2T>A
ENST00000474875.5:n.430+2T>A
ENST00000524653.1:n.523+2T>A
ENST00000527391.5:c.467+2T>A
ENST00000528443.6:c.841+2T>A ENSP00000435365.2:n.841+2T>A
ENST00000531630.6:c.505+2T>A ENSP00000434316.2:n.505+2T>A
ENST00000606911.6:c.838+2T>A ENSP00000476687.1:n.838+2T>A
XM_011509403.1:c.841+2T>A XP_011507705.1:n.841+2T>A
XM_011509403.2:c.841+2T>A XP_011507705.1:n.841+2T>A
XM_011509404.1:c.838+2T>A XP_011507706.1:n.838+2T>A
XM_011509404.2:c.838+2T>A XP_011507706.1:n.838+2T>A
XM_024446305.1:c.-63+2T>A XP_024302073.1:n.-63+2T>A