Canonical Allele Identifier: CA1151818

Gene: RIT1

Linked Data

• dbSNP Id: rs776109027
• ExAC: 1:155874293 C / T
• gnomAD v2: 1-155874293-C-T
• gnomAD v4: 1-155904502-C-T
• MyVariant Identifiers: chr1:g.155874293C>T (hg19) ; chr1:g.155904502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904502C>T , CM000663.2:g.155904502C>T	GRCh38
NC_000001.10:g.155874293C>T , CM000663.1:g.155874293C>T	GRCh37
NC_000001.9:g.154140917C>T	NCBI36
NG_033885.1:g.11901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.246G>A	ENSP00000476319.1:p.Arg82=
ENST00000539040.6:c.130G>A	ENSP00000441950.1:p.Ala44Thr
ENST00000704061.1:c.215G>A	ENSP00000515664.1:p.Gly72Asp
ENST00000368323.8:c.238G>A MANE Select	ENSP00000357306.3:p.Ala80Thr
ENST00000651833.1:c.238G>A	ENSP00000498732.1:p.Ala80Thr
ENST00000651853.1:c.241G>A	ENSP00000498685.1:p.Ala81Thr
ENST00000368322.7:c.289G>A	ENSP00000357305.3:p.Ala97Thr
ENST00000368323.7:c.238G>A	ENSP00000357306.3:p.Ala80Thr
ENST00000461050.5:c.246G>A	ENSP00000476319.1:p.Arg82=
ENST00000539040.5:c.130G>A	ENSP00000441950.1:p.Ala44Thr
ENST00000609492.1:c.238G>A	ENSP00000476612.1:p.Ala80Thr
NM_001256820.1:c.130G>A	NP_001243749.1:p.Ala44Thr
NM_001256821.1:c.289G>A	NP_001243750.1:p.Ala97Thr
NM_006912.5:c.238G>A	NP_008843.1:p.Ala80Thr
NM_001256820.2:c.130G>A	NP_001243749.1:p.Ala44Thr
NM_001256821.2:c.289G>A	NP_001243750.1:p.Ala97Thr
NM_006912.6:c.238G>A MANE Select	NP_008843.1:p.Ala80Thr