Canonical Allele Identifier: CA367643959

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453364A>C (hg19) ; chr7:g.66988377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988377A>C , CM000669.2:g.66988377A>C	GRCh38
NC_000007.13:g.66453364A>C , CM000669.1:g.66453364A>C	GRCh37
NC_000007.12:g.66090799A>C	NCBI36
NG_007277.1:g.12225T>G , LRG_104:g.12225T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*478T>G	ENSP00000394586.1:n.*478T>G
ENST00000697860.1:n.714T>G
ENST00000697861.1:c.546T>G	ENSP00000513460.1:p.Phe182Leu
ENST00000697862.1:c.*188T>G	ENSP00000513461.1:n.*188T>G
ENST00000697863.1:c.690T>G	ENSP00000513462.1:p.Phe230Leu
ENST00000697864.1:n.1891T>G
ENST00000697865.1:c.690T>G	ENSP00000513463.1:p.Phe230Leu
ENST00000697866.1:c.429T>G	ENSP00000513464.1:p.Phe143Leu
ENST00000697867.1:c.725T>G
ENST00000697868.1:c.*511T>G	ENSP00000513466.1:n.*511T>G
ENST00000697897.1:c.747T>G	ENSP00000513469.1:p.Phe249Leu
ENST00000246868.7:c.747T>G MANE Select	ENSP00000246868.2:p.Phe249Leu
ENST00000246868.6:c.747T>G	ENSP00000246868.2:p.Phe249Leu
ENST00000414306.5:c.*478T>G	ENSP00000394586.1:n.*478T>G
ENST00000617799.1:c.747T>G	ENSP00000483040.1:p.Phe249Leu
NM_016038.2:c.747T>G , LRG_104t1:c.747T>G	NP_057122.2:p.Phe249Leu
NM_016038.3:c.747T>G	NP_057122.2:p.Phe249Leu
NM_016038.4:c.747T>G MANE Select	NP_057122.2:p.Phe249Leu