Canonical Allele Identifier: CA1151816

Gene: RIT1

Linked Data

• dbSNP Id: rs760141559
• ExAC: 1:155874292 G / A
• gnomAD v2: 1-155874292-G-A
• gnomAD v4: 1-155904501-G-A
• MyVariant Identifiers: chr1:g.155874292G>A (hg19) ; chr1:g.155904501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904501G>A , CM000663.2:g.155904501G>A	GRCh38
NC_000001.10:g.155874292G>A , CM000663.1:g.155874292G>A	GRCh37
NC_000001.9:g.154140916G>A	NCBI36
NG_033885.1:g.11902C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.247C>T	ENSP00000476319.1:p.Gln83Ter
ENST00000539040.6:c.131C>T	ENSP00000441950.1:p.Ala44Val
ENST00000704061.1:c.216C>T	ENSP00000515664.1:p.Gly72=
ENST00000368323.8:c.239C>T MANE Select	ENSP00000357306.3:p.Ala80Val
ENST00000651833.1:c.239C>T	ENSP00000498732.1:p.Ala80Val
ENST00000651853.1:c.242C>T	ENSP00000498685.1:p.Ala81Val
ENST00000368322.7:c.290C>T	ENSP00000357305.3:p.Ala97Val
ENST00000368323.7:c.239C>T	ENSP00000357306.3:p.Ala80Val
ENST00000461050.5:c.247C>T	ENSP00000476319.1:p.Gln83Ter
ENST00000539040.5:c.131C>T	ENSP00000441950.1:p.Ala44Val
ENST00000609492.1:c.239C>T	ENSP00000476612.1:p.Ala80Val
NM_001256820.1:c.131C>T	NP_001243749.1:p.Ala44Val
NM_001256821.1:c.290C>T	NP_001243750.1:p.Ala97Val
NM_006912.5:c.239C>T	NP_008843.1:p.Ala80Val
NM_001256820.2:c.131C>T	NP_001243749.1:p.Ala44Val
NM_001256821.2:c.290C>T	NP_001243750.1:p.Ala97Val
NM_006912.6:c.239C>T MANE Select	NP_008843.1:p.Ala80Val