Canonical Allele Identifier: CA1151755

Gene: RIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900398G>C , CM000663.2:g.155900398G>C	GRCh38
NC_000001.10:g.155870189G>C , CM000663.1:g.155870189G>C	GRCh37
NC_000001.9:g.154136813G>C	NCBI36
NG_033885.1:g.16005C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.650C>G MANE Select	NP_008843.1:p.Ser217Ter
ENST00000368323.8:c.650C>G MANE Select	ENSP00000357306.3:p.Ser217Ter
NM_001256820.1:c.542C>G	NP_001243749.1:p.Ser181Ter
NM_001256820.2:c.542C>G	NP_001243749.1:p.Ser181Ter
NM_001256821.1:c.701C>G	NP_001243750.1:p.Ser234Ter
NM_001256821.2:c.701C>G	NP_001243750.1:p.Ser234Ter
NM_006912.5:c.650C>G	NP_008843.1:p.Ser217Ter
ENST00000368322.7:c.701C>G	ENSP00000357305.3:p.Ser234Ter
ENST00000368323.7:c.650C>G	ENSP00000357306.3:p.Ser217Ter
ENST00000461050.5:c.*379C>G	ENSP00000476319.1:n.*379C>G
ENST00000461050.6:c.*379C>G	ENSP00000476319.1:n.*379C>G
ENST00000539040.5:c.542C>G	ENSP00000441950.1:p.Ser181Ter
ENST00000539040.6:c.542C>G	ENSP00000441950.1:p.Ser181Ter
ENST00000651853.1:c.653C>G	ENSP00000498685.1:p.Ser218Ter
ENST00000704061.1:c.*321C>G	ENSP00000515664.1:n.*321C>G