Canonical Allele Identifier: CA367651447

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66459201G>C (hg19) ; chr7:g.66994214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66994214G>C , CM000669.2:g.66994214G>C	GRCh38
NC_000007.13:g.66459201G>C , CM000669.1:g.66459201G>C	GRCh37
NC_000007.12:g.66096636G>C	NCBI36
NG_007277.1:g.6388C>G , LRG_104:g.6388C>G
NG_033069.1:g.2410G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.250+6C>G	ENSP00000394586.1:n.250+6C>G
ENST00000697860.1:n.223C>G
ENST00000697861.1:c.256C>G	ENSP00000513460.1:p.Gln86Glu
ENST00000697862.1:c.256C>G	ENSP00000513461.1:p.Gln86Glu
ENST00000697863.1:c.199C>G	ENSP00000513462.1:p.Gln67Glu
ENST00000697864.1:n.1400C>G
ENST00000697865.1:c.199C>G	ENSP00000513463.1:p.Gln67Glu
ENST00000697866.1:c.-63C>G	ENSP00000513464.1:n.-63C>G
ENST00000697867.1:c.96C>G
ENST00000697868.1:c.*20C>G	ENSP00000513466.1:n.*20C>G
ENST00000697869.1:c.192C>G	ENSP00000513467.1:p.Ser64Arg
ENST00000697897.1:c.256C>G	ENSP00000513469.1:p.Gln86Glu
ENST00000246868.7:c.256C>G MANE Select	ENSP00000246868.2:p.Gln86Glu
ENST00000246868.6:c.256C>G	ENSP00000246868.2:p.Gln86Glu
ENST00000414306.5:c.250+6C>G	ENSP00000394586.1:n.250+6C>G
ENST00000463579.1:n.147+6C>G
ENST00000490953.5:n.399+6C>G
ENST00000617799.1:c.256C>G	ENSP00000483040.1:p.Gln86Glu
NM_016038.2:c.256C>G , LRG_104t1:c.256C>G	NP_057122.2:p.Gln86Glu
NM_016038.3:c.256C>G	NP_057122.2:p.Gln86Glu
NM_016038.4:c.256C>G MANE Select	NP_057122.2:p.Gln86Glu