Canonical Allele Identifier: CA455780129

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458378T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993391T>G , CM000669.2:g.66993391T>G	GRCh38
NC_000007.13:g.66458378T>G , CM000669.1:g.66458378T>G	GRCh37
NC_000007.12:g.66095813T>G	NCBI36
NG_007277.1:g.7211A>C , LRG_104:g.7211A>C
NG_033069.1:g.1587T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*16A>C	ENSP00000394586.1:n.*16A>C
ENST00000697860.1:n.252A>C
ENST00000697861.1:c.258+821A>C	ENSP00000513460.1:n.258+821A>C
ENST00000697862.1:c.285A>C	ENSP00000513461.1:p.Val95=
ENST00000697863.1:c.228A>C	ENSP00000513462.1:p.Val76=
ENST00000697864.1:n.1429A>C
ENST00000697865.1:c.228A>C	ENSP00000513463.1:p.Val76=
ENST00000697866.1:c.-34A>C	ENSP00000513464.1:n.-34A>C
ENST00000697867.1:c.125A>C
ENST00000697868.1:c.*49A>C	ENSP00000513466.1:n.*49A>C
ENST00000697869.1:c.*20A>C	ENSP00000513467.1:n.*20A>C
ENST00000697897.1:c.285A>C	ENSP00000513469.1:p.Val95=
ENST00000246868.7:c.285A>C MANE Select	ENSP00000246868.2:p.Val95=
ENST00000246868.6:c.285A>C	ENSP00000246868.2:p.Val95=
ENST00000414306.5:c.*16A>C	ENSP00000394586.1:n.*16A>C
ENST00000463579.1:n.174A>C
ENST00000490953.5:n.426A>C
ENST00000617799.1:c.285A>C	ENSP00000483040.1:p.Val95=
NM_016038.2:c.285A>C , LRG_104t1:c.285A>C	NP_057122.2:p.Val95=
NM_016038.3:c.285A>C	NP_057122.2:p.Val95=
NM_016038.4:c.285A>C MANE Select	NP_057122.2:p.Val95=