Canonical Allele Identifier: CA1268958
Community Standard Title: NM_015602.4(TOR1AIP1):c.797-2A>T
Gene: TOR1AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179907821A>T , CM000663.2:g.179907821A>T GRCh38
NC_000001.10:g.179876956A>T , CM000663.1:g.179876956A>T GRCh37
NC_000001.9:g.178143579A>T NCBI36
NG_042316.1:g.30780A>T

Transcript Alleles

HGVS Amino-acid Change
NM_015602.4:c.797-2A>T MANE Select NP_056417.2:n.797-2A>T
ENST00000606911.7:c.797-2A>T MANE Select ENSP00000476687.1:n.797-2A>T
NM_001267578.1:c.800-2A>T NP_001254507.1:n.800-2A>T
NM_001267578.2:c.800-2A>T NP_001254507.1:n.800-2A>T
NM_015602.3:c.797-2A>T NP_056417.2:n.797-2A>T
ENST00000271583.7:c.800-2A>T ENSP00000271583.3:n.800-2A>T
ENST00000435319.8:c.434-2A>T ENSP00000393292.3:n.434-2A>T
ENST00000447964.1:c.58-2A>T
ENST00000474875.5:n.389-2A>T
ENST00000524653.1:n.482-2A>T
ENST00000527391.5:c.426-2A>T
ENST00000528443.6:c.800-2A>T ENSP00000435365.2:n.800-2A>T
ENST00000531630.6:c.464-2A>T ENSP00000434316.2:n.464-2A>T
ENST00000606911.6:c.797-2A>T ENSP00000476687.1:n.797-2A>T
XM_011509403.1:c.800-2A>T XP_011507705.1:n.800-2A>T
XM_011509403.2:c.800-2A>T XP_011507705.1:n.800-2A>T
XM_011509404.1:c.797-2A>T XP_011507706.1:n.797-2A>T
XM_011509404.2:c.797-2A>T XP_011507706.1:n.797-2A>T
XM_024446305.1:c.-104-2A>T XP_024302073.1:n.-104-2A>T