Canonical Allele Identifier: CA889715777

Gene: RIT1

Linked Data

• ClinVar Variation Id: 2145986
• ClinVar RCV Id: RCV003066898
• dbSNP Id: rs1160848351
• gnomAD v3: 1-155900634-G-A
• gnomAD v4: 1-155900634-G-A
• MyVariant Identifiers: chr1:g.155870425G>A (hg19) ; chr1:g.155900634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900634G>A , CM000663.2:g.155900634G>A	GRCh38
NC_000001.10:g.155870425G>A , CM000663.1:g.155870425G>A	GRCh37
NC_000001.9:g.154137049G>A	NCBI36
NG_033885.1:g.15769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*159-16C>T	ENSP00000476319.1:n.*159-16C>T
ENST00000539040.6:c.322-16C>T	ENSP00000441950.1:n.322-16C>T
ENST00000704061.1:c.*101-16C>T	ENSP00000515664.1:n.*101-16C>T
ENST00000368323.8:c.430-16C>T MANE Select	ENSP00000357306.3:n.430-16C>T
ENST00000651853.1:c.433-16C>T	ENSP00000498685.1:n.433-16C>T
ENST00000368322.7:c.481-16C>T	ENSP00000357305.3:n.481-16C>T
ENST00000368323.7:c.430-16C>T	ENSP00000357306.3:n.430-16C>T
ENST00000461050.5:c.*159-16C>T	ENSP00000476319.1:n.*159-16C>T
ENST00000539040.5:c.322-16C>T	ENSP00000441950.1:n.322-16C>T
ENST00000609492.1:c.430-16C>T	ENSP00000476612.1:n.430-16C>T
NM_001256820.1:c.322-16C>T	NP_001243749.1:n.322-16C>T
NM_001256821.1:c.481-16C>T	NP_001243750.1:n.481-16C>T
NM_006912.5:c.430-16C>T	NP_008843.1:n.430-16C>T
NM_001256820.2:c.322-16C>T	NP_001243749.1:n.322-16C>T
NM_001256821.2:c.481-16C>T	NP_001243750.1:n.481-16C>T
NM_006912.6:c.430-16C>T MANE Select	NP_008843.1:n.430-16C>T