Canonical Allele Identifier: CA353870

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183403
• ClinVar RCV Id: RCV000207340 ; RCV000282691 ; RCV000578238 ; RCV000856755 ; RCV003114309
• dbSNP Id: rs869025191
• MyVariant Identifiers: chr1:g.155874530C>T (hg19) ; chr1:g.155904739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904739C>T , CM000663.2:g.155904739C>T	GRCh38
NC_000001.10:g.155874530C>T , CM000663.1:g.155874530C>T	GRCh37
NC_000001.9:g.154141154C>T	NCBI36
NG_033885.1:g.11664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.229G>A	ENSP00000476319.1:p.Ala77Thr
ENST00000539040.6:c.121G>A	ENSP00000441950.1:p.Ala41Thr
ENST00000704061.1:c.215-237G>A	ENSP00000515664.1:n.215-237G>A
ENST00000368323.8:c.229G>A MANE Select	ENSP00000357306.3:p.Ala77Thr
ENST00000650659.1:n.411G>A
ENST00000651833.1:c.229G>A	ENSP00000498732.1:p.Ala77Thr
ENST00000651853.1:c.229G>A	ENSP00000498685.1:p.Ala77Thr
ENST00000368322.7:c.280G>A	ENSP00000357305.3:p.Ala94Thr
ENST00000368323.7:c.229G>A	ENSP00000357306.3:p.Ala77Thr
ENST00000461050.5:c.229G>A	ENSP00000476319.1:p.Ala77Thr
ENST00000539040.5:c.121G>A	ENSP00000441950.1:p.Ala41Thr
ENST00000609492.1:c.229G>A	ENSP00000476612.1:p.Ala77Thr
NM_001256820.1:c.121G>A	NP_001243749.1:p.Ala41Thr
NM_001256821.1:c.280G>A	NP_001243750.1:p.Ala94Thr
NM_006912.5:c.229G>A	NP_008843.1:p.Ala77Thr
NM_001256820.2:c.121G>A	NP_001243749.1:p.Ala41Thr
NM_001256821.2:c.280G>A	NP_001243750.1:p.Ala94Thr
NM_006912.6:c.229G>A MANE Select	NP_008843.1:p.Ala77Thr