Canonical Allele Identifier: CA421059355
Gene: RIT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.155874291T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904500T>A , CM000663.2:g.155904500T>A GRCh38
NC_000001.10:g.155874291T>A , CM000663.1:g.155874291T>A GRCh37
NC_000001.9:g.154140915T>A NCBI36
NG_033885.1:g.11903A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461050.6:c.248A>T ENSP00000476319.1:p.Gln83Leu
ENST00000539040.6:c.132A>T ENSP00000441950.1:p.Ala44=
ENST00000704061.1:c.217A>T ENSP00000515664.1:p.Arg73Ter
ENST00000368323.8:c.240A>T MANE Select ENSP00000357306.3:p.Ala80=
ENST00000651833.1:c.240A>T ENSP00000498732.1:p.Ala80=
ENST00000651853.1:c.243A>T ENSP00000498685.1:p.Ala81=
ENST00000368322.7:c.291A>T ENSP00000357305.3:p.Ala97=
ENST00000368323.7:c.240A>T ENSP00000357306.3:p.Ala80=
ENST00000461050.5:c.248A>T ENSP00000476319.1:p.Gln83Leu
ENST00000539040.5:c.132A>T ENSP00000441950.1:p.Ala44=
ENST00000609492.1:c.240A>T ENSP00000476612.1:p.Ala80=
NM_001256820.1:c.132A>T NP_001243749.1:p.Ala44=
NM_001256821.1:c.291A>T NP_001243750.1:p.Ala97=
NM_006912.5:c.240A>T NP_008843.1:p.Ala80=
NM_001256820.2:c.132A>T NP_001243749.1:p.Ala44=
NM_001256821.2:c.291A>T NP_001243750.1:p.Ala97=
NM_006912.6:c.240A>T MANE Select NP_008843.1:p.Ala80=