Canonical Allele Identifier: CA455779806

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453484T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988497T>G , CM000669.2:g.66988497T>G	GRCh38
NC_000007.13:g.66453484T>G , CM000669.1:g.66453484T>G	GRCh37
NC_000007.12:g.66090919T>G	NCBI36
NG_007277.1:g.12105A>C , LRG_104:g.12105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*358A>C	ENSP00000394586.1:n.*358A>C
ENST00000697860.1:n.594A>C
ENST00000697861.1:c.426A>C	ENSP00000513460.1:p.Val142=
ENST00000697862.1:c.*68A>C	ENSP00000513461.1:n.*68A>C
ENST00000697863.1:c.570A>C	ENSP00000513462.1:p.Val190=
ENST00000697864.1:n.1771A>C
ENST00000697865.1:c.570A>C	ENSP00000513463.1:p.Val190=
ENST00000697866.1:c.309A>C	ENSP00000513464.1:p.Val103=
ENST00000697867.1:c.605A>C
ENST00000697868.1:c.*391A>C	ENSP00000513466.1:n.*391A>C
ENST00000697897.1:c.627A>C	ENSP00000513469.1:p.Val209=
ENST00000246868.7:c.627A>C MANE Select	ENSP00000246868.2:p.Val209=
ENST00000246868.6:c.627A>C	ENSP00000246868.2:p.Val209=
ENST00000414306.5:c.*358A>C	ENSP00000394586.1:n.*358A>C
ENST00000617799.1:c.627A>C	ENSP00000483040.1:p.Val209=
NM_016038.2:c.627A>C , LRG_104t1:c.627A>C	NP_057122.2:p.Val209=
NM_016038.3:c.627A>C	NP_057122.2:p.Val209=
NM_016038.4:c.627A>C MANE Select	NP_057122.2:p.Val209=