Canonical Allele Identifier: CA367650597

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458371T>C (hg19) ; chr7:g.66993384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993384T>C , CM000669.2:g.66993384T>C	GRCh38
NC_000007.13:g.66458371T>C , CM000669.1:g.66458371T>C	GRCh37
NC_000007.12:g.66095806T>C	NCBI36
NG_007277.1:g.7218A>G , LRG_104:g.7218A>G
NG_033069.1:g.1580T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*23A>G	ENSP00000394586.1:n.*23A>G
ENST00000697860.1:n.259A>G
ENST00000697861.1:c.258+828A>G	ENSP00000513460.1:n.258+828A>G
ENST00000697862.1:c.292A>G	ENSP00000513461.1:p.Lys98Glu
ENST00000697863.1:c.235A>G	ENSP00000513462.1:p.Lys79Glu
ENST00000697864.1:n.1436A>G
ENST00000697865.1:c.235A>G	ENSP00000513463.1:p.Lys79Glu
ENST00000697866.1:c.-27A>G	ENSP00000513464.1:n.-27A>G
ENST00000697867.1:c.132A>G
ENST00000697868.1:c.*56A>G	ENSP00000513466.1:n.*56A>G
ENST00000697869.1:c.*27A>G	ENSP00000513467.1:n.*27A>G
ENST00000697897.1:c.292A>G	ENSP00000513469.1:p.Lys98Glu
ENST00000246868.7:c.292A>G MANE Select	ENSP00000246868.2:p.Lys98Glu
ENST00000246868.6:c.292A>G	ENSP00000246868.2:p.Lys98Glu
ENST00000414306.5:c.*23A>G	ENSP00000394586.1:n.*23A>G
ENST00000463579.1:n.181A>G
ENST00000490953.5:n.433A>G
ENST00000617799.1:c.292A>G	ENSP00000483040.1:p.Lys98Glu
NM_016038.2:c.292A>G , LRG_104t1:c.292A>G	NP_057122.2:p.Lys98Glu
NM_016038.3:c.292A>G	NP_057122.2:p.Lys98Glu
NM_016038.4:c.292A>G MANE Select	NP_057122.2:p.Lys98Glu