Canonical Allele Identifier: CA1268639
Gene: TOR1AIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179882572C>G
GRCh37 chr1:g.179851707C>G
Revel Score:
ENST00000528443 0.162
ENST00000325993 0.162
ENST00000271583 0.162
ENST00000435319 0.162
gnomAD v2:
1:179851707 C / G
gnomAD v3:
1:179882572 C / G
gnomAD v4:
chr1-179882572-C-G
Joint Max Group AF 0.0033378 (NFE)
Genomes Max Group AF 0.00312076 (NFE)
Exomes Max Group AF 0.00333137 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179882572C>G , CM000663.2:g.179882572C>G GRCh38
NC_000001.10:g.179851707C>G , CM000663.1:g.179851707C>G GRCh37
NC_000001.9:g.178118330C>G NCBI36
NG_042316.1:g.5531C>G
NG_053185.1:g.1043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000606911.7:c.70C>G MANE Select ENSP00000476687.1:p.Pro24Ala
ENST00000271583.7:c.70C>G ENSP00000271583.3:p.Pro24Ala
ENST00000528443.6:c.70C>G ENSP00000435365.2:p.Pro24Ala
ENST00000606911.6:c.70C>G ENSP00000476687.1:p.Pro24Ala
NM_001267578.1:c.70C>G NP_001254507.1:p.Pro24Ala
NM_015602.3:c.70C>G NP_056417.2:p.Pro24Ala
XM_011509403.1:c.70C>G XP_011507705.1:p.Pro24Ala
XM_011509404.1:c.70C>G XP_011507706.1:p.Pro24Ala
XM_011509403.2:c.70C>G XP_011507705.1:p.Pro24Ala
XM_011509404.2:c.70C>G XP_011507706.1:p.Pro24Ala
NM_001267578.2:c.70C>G NP_001254507.1:p.Pro24Ala
NM_015602.4:c.70C>G MANE Select NP_056417.2:p.Pro24Ala
Search 100 bp 5'
Search 100 bp 3'