Canonical Allele Identifier: CA367645840

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66456143T>C (hg19) ; chr7:g.66991156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66991156T>C , CM000669.2:g.66991156T>C	GRCh38
NC_000007.13:g.66456143T>C , CM000669.1:g.66456143T>C	GRCh37
NC_000007.12:g.66093578T>C	NCBI36
NG_007277.1:g.9446A>G , LRG_104:g.9446A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*336A>G	ENSP00000394586.1:n.*336A>G
ENST00000697860.1:n.572A>G
ENST00000697861.1:c.404A>G	ENSP00000513460.1:p.Tyr135Cys
ENST00000697862.1:c.*46A>G	ENSP00000513461.1:n.*46A>G
ENST00000697863.1:c.548A>G	ENSP00000513462.1:p.Tyr183Cys
ENST00000697864.1:n.1749A>G
ENST00000697865.1:c.548A>G	ENSP00000513463.1:p.Tyr183Cys
ENST00000697866.1:c.287A>G	ENSP00000513464.1:p.Tyr96Cys
ENST00000697867.1:c.445A>G
ENST00000697868.1:c.*369A>G	ENSP00000513466.1:n.*369A>G
ENST00000697897.1:c.605A>G	ENSP00000513469.1:p.Tyr202Cys
ENST00000246868.7:c.605A>G MANE Select	ENSP00000246868.2:p.Tyr202Cys
ENST00000246868.6:c.605A>G	ENSP00000246868.2:p.Tyr202Cys
ENST00000414306.5:c.*336A>G	ENSP00000394586.1:n.*336A>G
ENST00000463579.1:n.494A>G
ENST00000490953.5:n.746A>G
ENST00000617799.1:c.605A>G	ENSP00000483040.1:p.Tyr202Cys
NM_016038.2:c.605A>G , LRG_104t1:c.605A>G	NP_057122.2:p.Tyr202Cys
NM_016038.3:c.605A>G	NP_057122.2:p.Tyr202Cys
NM_016038.4:c.605A>G MANE Select	NP_057122.2:p.Tyr202Cys