Canonical Allele Identifier: CA1151908

Gene: RIT1

Linked Data

• ClinVar Variation Id: 509441
• ClinVar RCV Id: RCV001813519 ; RCV001697491 ; RCV002368057 ; RCV001860276 ; RCV003420058
• dbSNP Id: rs145034964
• ExAC: 1:155880515 C / T
• gnomAD v2: 1-155880515-C-T
• gnomAD v3: 1-155910724-C-T
• gnomAD v4: 1-155910724-C-T
• MyVariant Identifiers: chr1:g.155880515C>T (hg19) ; chr1:g.155910724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155910724C>T , CM000663.2:g.155910724C>T	GRCh38
NC_000001.10:g.155880515C>T , CM000663.1:g.155880515C>T	GRCh37
NC_000001.9:g.154147139C>T	NCBI36
NG_033885.1:g.5679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.38G>A	ENSP00000476319.1:p.Ser13Asn
ENST00000539040.6:c.-2-218G>A	ENSP00000441950.1:n.-2-218G>A
ENST00000704061.1:c.89G>A	ENSP00000515664.1:p.Ser30Asn
ENST00000368323.8:c.38G>A MANE Select	ENSP00000357306.3:p.Ser13Asn
ENST00000650659.1:n.220G>A
ENST00000651833.1:c.38G>A	ENSP00000498732.1:p.Ser13Asn
ENST00000651853.1:c.38G>A	ENSP00000498685.1:p.Ser13Asn
ENST00000368322.7:c.89G>A	ENSP00000357305.3:p.Ser30Asn
ENST00000368323.7:c.38G>A	ENSP00000357306.3:p.Ser13Asn
ENST00000461050.5:c.38G>A	ENSP00000476319.1:p.Ser13Asn
ENST00000462687.1:n.68G>A
ENST00000539040.5:c.-2-218G>A	ENSP00000441950.1:n.-2-218G>A
ENST00000609492.1:c.38G>A	ENSP00000476612.1:p.Ser13Asn
NM_001256820.1:c.-2-218G>A	NP_001243749.1:n.-2-218G>A
NM_001256821.1:c.89G>A	NP_001243750.1:p.Ser30Asn
NM_006912.5:c.38G>A	NP_008843.1:p.Ser13Asn
NM_001256820.2:c.-2-218G>A	NP_001243749.1:n.-2-218G>A
NM_001256821.2:c.89G>A	NP_001243750.1:p.Ser30Asn
NM_006912.6:c.38G>A MANE Select	NP_008843.1:p.Ser13Asn