Canonical Allele Identifier: CA1269145
Gene: TOR1AIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179917914C>T
GRCh37 chr1:g.179887049C>T
Revel Score:
ENST00000271583 0.372
ENST00000435319 0.372
gnomAD v2:
1:179887049 C / T
gnomAD v3:
1:179917914 C / T
gnomAD v4:
chr1-179917914-C-T
Joint Max Group AF 0.00002555 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00002082 (NFE)
ClinVar RCV:
RCV000626055
ClinVar Variation:
522870
dbSNP:
201518227
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179917914C>T , CM000663.2:g.179917914C>T GRCh38
NC_000001.10:g.179887049C>T , CM000663.1:g.179887049C>T GRCh37
NC_000001.9:g.178153672C>T NCBI36
NG_042316.1:g.40873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000606911.7:c.1427C>T MANE Select ENSP00000476687.1:p.Ala476Val
ENST00000271583.7:c.1475C>T ENSP00000271583.3:p.Ala492Val
ENST00000435319.8:c.1064C>T ENSP00000393292.3:p.Ala355Val
ENST00000447964.1:c.631C>T
ENST00000528443.6:c.1430C>T ENSP00000435365.2:p.Ala477Val
ENST00000606911.6:c.1427C>T ENSP00000476687.1:p.Ala476Val
NM_001267578.1:c.1430C>T NP_001254507.1:p.Ala477Val
NM_015602.3:c.1427C>T NP_056417.2:p.Ala476Val
XM_011509403.1:c.1475C>T XP_011507705.1:p.Ala492Val
XM_011509404.1:c.1472C>T XP_011507706.1:p.Ala491Val
XM_011509403.2:c.1475C>T XP_011507705.1:p.Ala492Val
XM_011509404.2:c.1472C>T XP_011507706.1:p.Ala491Val
XM_024446305.1:c.572C>T XP_024302073.1:p.Ala191Val
NM_001267578.2:c.1430C>T NP_001254507.1:p.Ala477Val
NM_015602.4:c.1427C>T MANE Select NP_056417.2:p.Ala476Val
Search 100 bp 5'
Search 100 bp 3'