Canonical Allele Identifier: CA342802978

Gene: RIT1

Linked Data

• gnomAD v4: 1-155904501-G-C
• MyVariant Identifiers: chr1:g.155874292G>C (hg19) ; chr1:g.155904501G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.247C>G	ENSP00000476319.1:p.Gln83Glu
ENST00000539040.6:c.131C>G	ENSP00000441950.1:p.Ala44Gly
ENST00000704061.1:c.216C>G	ENSP00000515664.1:p.Gly72=
ENST00000368323.8:c.239C>G MANE Select	ENSP00000357306.3:p.Ala80Gly
ENST00000651833.1:c.239C>G	ENSP00000498732.1:p.Ala80Gly
ENST00000651853.1:c.242C>G	ENSP00000498685.1:p.Ala81Gly
ENST00000368322.7:c.290C>G	ENSP00000357305.3:p.Ala97Gly
ENST00000368323.7:c.239C>G	ENSP00000357306.3:p.Ala80Gly
ENST00000461050.5:c.247C>G	ENSP00000476319.1:p.Gln83Glu
ENST00000539040.5:c.131C>G	ENSP00000441950.1:p.Ala44Gly
ENST00000609492.1:c.239C>G	ENSP00000476612.1:p.Ala80Gly
NM_001256820.1:c.131C>G	NP_001243749.1:p.Ala44Gly
NM_001256821.1:c.290C>G	NP_001243750.1:p.Ala97Gly
NM_006912.5:c.239C>G	NP_008843.1:p.Ala80Gly
NM_001256820.2:c.131C>G	NP_001243749.1:p.Ala44Gly
NM_001256821.2:c.290C>G	NP_001243750.1:p.Ala97Gly
NM_006912.6:c.239C>G MANE Select	NP_008843.1:p.Ala80Gly