Canonical Allele Identifier: CA1268674
Gene: TOR1AIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179882657A>T
GRCh37 chr1:g.179851792A>T
Revel Score:
ENST00000528443 0.041
ENST00000325993 0.041
ENST00000271583 0.041
ENST00000435319 0.041
gnomAD v2:
1:179851792 A / T
gnomAD v3:
1:179882657 A / T
gnomAD v4:
chr1-179882657-A-T
Joint Max Group AF 0.00238794 (AFR)
Genomes Max Group AF 0.00202943 (AFR)
Exomes Max Group AF 0.00256716 (AFR)
ClinVar RCV:
RCV000653384
RCV001556446
ClinVar Variation:
542852
dbSNP:
139690983
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179882657A>T , CM000663.2:g.179882657A>T GRCh38
NC_000001.10:g.179851792A>T , CM000663.1:g.179851792A>T GRCh37
NC_000001.9:g.178118415A>T NCBI36
NG_042316.1:g.5616A>T
NG_053185.1:g.958T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000606911.7:c.155A>T MANE Select ENSP00000476687.1:p.Gln52Leu
ENST00000271583.7:c.155A>T ENSP00000271583.3:p.Gln52Leu
ENST00000528443.6:c.155A>T ENSP00000435365.2:p.Gln52Leu
ENST00000606911.6:c.155A>T ENSP00000476687.1:p.Gln52Leu
NM_001267578.1:c.155A>T NP_001254507.1:p.Gln52Leu
NM_015602.3:c.155A>T NP_056417.2:p.Gln52Leu
XM_011509403.1:c.155A>T XP_011507705.1:p.Gln52Leu
XM_011509404.1:c.155A>T XP_011507706.1:p.Gln52Leu
XM_011509403.2:c.155A>T XP_011507705.1:p.Gln52Leu
XM_011509404.2:c.155A>T XP_011507706.1:p.Gln52Leu
NM_001267578.2:c.155A>T NP_001254507.1:p.Gln52Leu
NM_015602.4:c.155A>T MANE Select NP_056417.2:p.Gln52Leu
Search 100 bp 5'
Search 100 bp 3'