Canonical Allele Identifier: CA1151788

Gene: RIT1

Linked Data

• dbSNP Id: rs770599407
• ExAC: 1:155870445 A / G
• gnomAD v2: 1-155870445-A-G
• gnomAD v4: 1-155900654-A-G
• MyVariant Identifiers: chr1:g.155870445A>G (hg19) ; chr1:g.155900654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900654A>G , CM000663.2:g.155900654A>G	GRCh38
NC_000001.10:g.155870445A>G , CM000663.1:g.155870445A>G	GRCh37
NC_000001.9:g.154137069A>G	NCBI36
NG_033885.1:g.15749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*159-36T>C	ENSP00000476319.1:n.*159-36T>C
ENST00000539040.6:c.322-36T>C	ENSP00000441950.1:n.322-36T>C
ENST00000704061.1:c.*101-36T>C	ENSP00000515664.1:n.*101-36T>C
ENST00000368323.8:c.430-36T>C MANE Select	ENSP00000357306.3:n.430-36T>C
ENST00000651853.1:c.433-36T>C	ENSP00000498685.1:n.433-36T>C
ENST00000368322.7:c.481-36T>C	ENSP00000357305.3:n.481-36T>C
ENST00000368323.7:c.430-36T>C	ENSP00000357306.3:n.430-36T>C
ENST00000461050.5:c.*159-36T>C	ENSP00000476319.1:n.*159-36T>C
ENST00000539040.5:c.322-36T>C	ENSP00000441950.1:n.322-36T>C
ENST00000609492.1:c.430-36T>C	ENSP00000476612.1:n.430-36T>C
NM_001256820.1:c.322-36T>C	NP_001243749.1:n.322-36T>C
NM_001256821.1:c.481-36T>C	NP_001243750.1:n.481-36T>C
NM_006912.5:c.430-36T>C	NP_008843.1:n.430-36T>C
NM_001256820.2:c.322-36T>C	NP_001243749.1:n.322-36T>C
NM_001256821.2:c.481-36T>C	NP_001243750.1:n.481-36T>C
NM_006912.6:c.430-36T>C MANE Select	NP_008843.1:n.430-36T>C