Canonical Allele Identifier: CA1151764
Community Standard Title: NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155900446T>C , CM000663.2:g.155900446T>C GRCh38
NC_000001.10:g.155870237T>C , CM000663.1:g.155870237T>C GRCh37
NC_000001.9:g.154136861T>C NCBI36
NG_033885.1:g.15957A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.602A>G MANE Select NP_008843.1:p.Asn201Ser
ENST00000368323.8:c.602A>G MANE Select ENSP00000357306.3:p.Asn201Ser
NM_001256820.1:c.494A>G NP_001243749.1:p.Asn165Ser
NM_001256820.2:c.494A>G NP_001243749.1:p.Asn165Ser
NM_001256821.1:c.653A>G NP_001243750.1:p.Asn218Ser
NM_001256821.2:c.653A>G NP_001243750.1:p.Asn218Ser
NM_006912.5:c.602A>G NP_008843.1:p.Asn201Ser
ENST00000368322.7:c.653A>G ENSP00000357305.3:p.Asn218Ser
ENST00000368323.7:c.602A>G ENSP00000357306.3:p.Asn201Ser
ENST00000461050.5:c.*331A>G ENSP00000476319.1:n.*331A>G
ENST00000461050.6:c.*331A>G ENSP00000476319.1:n.*331A>G
ENST00000539040.5:c.494A>G ENSP00000441950.1:p.Asn165Ser
ENST00000539040.6:c.494A>G ENSP00000441950.1:p.Asn165Ser
ENST00000651853.1:c.605A>G ENSP00000498685.1:p.Asn202Ser
ENST00000704061.1:c.*273A>G ENSP00000515664.1:n.*273A>G