Canonical Allele Identifier: CA421059352

Gene: RIT1

Linked Data

• dbSNP Id: rs730881014
• gnomAD v2: 1-155874285-A-G
• MyVariant Identifiers: chr1:g.155874285A>G (hg19) ; chr1:g.155904494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904494A>G , CM000663.2:g.155904494A>G	GRCh38
NC_000001.10:g.155874285A>G , CM000663.1:g.155874285A>G	GRCh37
NC_000001.9:g.154140909A>G	NCBI36
NG_033885.1:g.11909T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.254T>C	ENSP00000476319.1:p.Leu85Ser
ENST00000539040.6:c.138T>C	ENSP00000441950.1:p.Phe46=
ENST00000704061.1:c.223T>C	ENSP00000515664.1:p.Tyr75His
ENST00000368323.8:c.246T>C MANE Select	ENSP00000357306.3:p.Phe82=
ENST00000651833.1:c.246T>C	ENSP00000498732.1:p.Phe82=
ENST00000651853.1:c.249T>C	ENSP00000498685.1:p.Phe83=
ENST00000368322.7:c.297T>C	ENSP00000357305.3:p.Phe99=
ENST00000368323.7:c.246T>C	ENSP00000357306.3:p.Phe82=
ENST00000461050.5:c.254T>C	ENSP00000476319.1:p.Leu85Ser
ENST00000539040.5:c.138T>C	ENSP00000441950.1:p.Phe46=
ENST00000609492.1:c.246T>C	ENSP00000476612.1:p.Phe82=
NM_001256820.1:c.138T>C	NP_001243749.1:p.Phe46=
NM_001256821.1:c.297T>C	NP_001243750.1:p.Phe99=
NM_006912.5:c.246T>C	NP_008843.1:p.Phe82=
NM_001256820.2:c.138T>C	NP_001243749.1:p.Phe46=
NM_001256821.2:c.297T>C	NP_001243750.1:p.Phe99=
NM_006912.6:c.246T>C MANE Select	NP_008843.1:p.Phe82=