Canonical Allele Identifier: CA2783451364

Gene: RIGI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32455526G>T , CM000671.2:g.32455526G>T	GRCh38
NC_000009.11:g.32455524G>T , CM000671.1:g.32455524G>T	GRCh37
NC_000009.10:g.32445524G>T	NCBI36
NG_046918.1:g.75799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379868.6:c.*1596C>A	ENSP00000369197.2:n.*1596C>A
ENST00000379883.3:c.*1596C>A MANE Select	ENSP00000369213.2:n.*1596C>A
ENST00000679665.1:c.*1596C>A	ENSP00000504921.1:n.*1596C>A
ENST00000679771.1:c.*3797C>A	ENSP00000505015.1:n.*3797C>A
ENST00000680198.1:c.*4142C>A	ENSP00000505143.1:n.*4142C>A
ENST00000681750.1:c.*1596C>A	ENSP00000506413.1:n.*1596C>A
NM_014314.3:c.*1596C>A	NP_055129.2:n.*1596C>A
NM_014314.4:c.*1596C>A MANE Select	NP_055129.2:n.*1596C>A
NM_001385907.1:c.*1596C>A	NP_001372836.1:n.*1596C>A
NM_001385909.1:c.*1596C>A	NP_001372838.1:n.*1596C>A
NM_001385910.1:c.*1596C>A	NP_001372839.1:n.*1596C>A
NM_001385912.1:c.*1596C>A	NP_001372841.1:n.*1596C>A
NM_001385913.1:c.*1596C>A	NP_001372842.1:n.*1596C>A
NM_001385914.1:c.*1596C>A	NP_001372843.1:n.*1596C>A