Canonical Allele Identifier: CA353873

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183411
• ClinVar RCV Id: RCV000207342 ; RCV000486847 ; RCV000707713 ; RCV001813421 ; RCV003965185
• dbSNP Id: rs869025197
• gnomAD v4: 1-155904475-A-G
• MyVariant Identifiers: chr1:g.155874266A>G (hg19) ; chr1:g.155904475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904475A>G , CM000663.2:g.155904475A>G	GRCh38
NC_000001.10:g.155874266A>G , CM000663.1:g.155874266A>G	GRCh37
NC_000001.9:g.154140890A>G	NCBI36
NG_033885.1:g.11928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.273T>C	ENSP00000476319.1:p.Ser91=
ENST00000539040.6:c.157T>C	ENSP00000441950.1:p.Tyr53His
ENST00000704061.1:c.242T>C	ENSP00000515664.1:p.Val81Ala
ENST00000368323.8:c.265T>C MANE Select	ENSP00000357306.3:p.Tyr89His
ENST00000651833.1:c.265T>C	ENSP00000498732.1:p.Tyr89His
ENST00000651853.1:c.268T>C	ENSP00000498685.1:p.Tyr90His
ENST00000368322.7:c.316T>C	ENSP00000357305.3:p.Tyr106His
ENST00000368323.7:c.265T>C	ENSP00000357306.3:p.Tyr89His
ENST00000461050.5:c.273T>C	ENSP00000476319.1:p.Ser91=
ENST00000539040.5:c.157T>C	ENSP00000441950.1:p.Tyr53His
ENST00000609492.1:c.265T>C	ENSP00000476612.1:p.Tyr89His
NM_001256820.1:c.157T>C	NP_001243749.1:p.Tyr53His
NM_001256821.1:c.316T>C	NP_001243750.1:p.Tyr106His
NM_006912.5:c.265T>C	NP_008843.1:p.Tyr89His
NM_001256820.2:c.157T>C	NP_001243749.1:p.Tyr53His
NM_001256821.2:c.316T>C	NP_001243750.1:p.Tyr106His
NM_006912.6:c.265T>C MANE Select	NP_008843.1:p.Tyr89His