Canonical Allele Identifier: CA367650677

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458379A>G (hg19) ; chr7:g.66993392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993392A>G , CM000669.2:g.66993392A>G	GRCh38
NC_000007.13:g.66458379A>G , CM000669.1:g.66458379A>G	GRCh37
NC_000007.12:g.66095814A>G	NCBI36
NG_007277.1:g.7210T>C , LRG_104:g.7210T>C
NG_033069.1:g.1588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*15T>C	ENSP00000394586.1:n.*15T>C
ENST00000697860.1:n.251T>C
ENST00000697861.1:c.258+820T>C	ENSP00000513460.1:n.258+820T>C
ENST00000697862.1:c.284T>C	ENSP00000513461.1:p.Val95Ala
ENST00000697863.1:c.227T>C	ENSP00000513462.1:p.Val76Ala
ENST00000697864.1:n.1428T>C
ENST00000697865.1:c.227T>C	ENSP00000513463.1:p.Val76Ala
ENST00000697866.1:c.-35T>C	ENSP00000513464.1:n.-35T>C
ENST00000697867.1:c.124T>C
ENST00000697868.1:c.*48T>C	ENSP00000513466.1:n.*48T>C
ENST00000697869.1:c.*19T>C	ENSP00000513467.1:n.*19T>C
ENST00000697897.1:c.284T>C	ENSP00000513469.1:p.Val95Ala
ENST00000246868.7:c.284T>C MANE Select	ENSP00000246868.2:p.Val95Ala
ENST00000246868.6:c.284T>C	ENSP00000246868.2:p.Val95Ala
ENST00000414306.5:c.*15T>C	ENSP00000394586.1:n.*15T>C
ENST00000463579.1:n.173T>C
ENST00000490953.5:n.425T>C
ENST00000617799.1:c.284T>C	ENSP00000483040.1:p.Val95Ala
NM_016038.2:c.284T>C , LRG_104t1:c.284T>C	NP_057122.2:p.Val95Ala
NM_016038.3:c.284T>C	NP_057122.2:p.Val95Ala
NM_016038.4:c.284T>C MANE Select	NP_057122.2:p.Val95Ala