Canonical Allele Identifier: CA15148128
Gene: RIT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.155898834G>A
GRCh37 chr1:g.155868625G>A
gnomAD v2:
1:155868625 G / A
gnomAD v3:
1:155898834 G / A
gnomAD v4:
chr1-155898834-G-A
Joint Max Group AF 0.73726722 (EAS)
Genomes Max Group AF 0.73229655 (EAS)
Exomes Max Group AF 0.73174294 (EAS)
dbSNP:
2282301
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155898834G>A , CM000663.2:g.155898834G>A GRCh38
NC_000001.10:g.155868625G>A , CM000663.1:g.155868625G>A GRCh37
NC_000001.9:g.154135249G>A NCBI36
NG_033885.1:g.17569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461050.6:c.*1943C>T ENSP00000476319.1:n.*1943C>T
ENST00000704061.1:c.*1885C>T ENSP00000515664.1:n.*1885C>T
ENST00000368323.8:c.*1554C>T MANE Select ENSP00000357306.3:n.*1554C>T
ENST00000368323.7:c.*1554C>T ENSP00000357306.3:n.*1554C>T
NM_001256820.1:c.*1554C>T NP_001243749.1:n.*1554C>T
NM_001256821.1:c.*1554C>T NP_001243750.1:n.*1554C>T
NM_006912.5:c.*1554C>T NP_008843.1:n.*1554C>T
NM_001256820.2:c.*1554C>T NP_001243749.1:n.*1554C>T
NM_001256821.2:c.*1554C>T NP_001243750.1:n.*1554C>T
NM_006912.6:c.*1554C>T MANE Select NP_008843.1:n.*1554C>T
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