Canonical Allele Identifier: CA455779772

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453459G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988472G>T , CM000669.2:g.66988472G>T	GRCh38
NC_000007.13:g.66453459G>T , CM000669.1:g.66453459G>T	GRCh37
NC_000007.12:g.66090894G>T	NCBI36
NG_007277.1:g.12130C>A , LRG_104:g.12130C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*383C>A	ENSP00000394586.1:n.*383C>A
ENST00000697860.1:n.619C>A
ENST00000697861.1:c.451C>A	ENSP00000513460.1:p.Arg151=
ENST00000697862.1:c.*93C>A	ENSP00000513461.1:n.*93C>A
ENST00000697863.1:c.595C>A	ENSP00000513462.1:p.Arg199=
ENST00000697864.1:n.1796C>A
ENST00000697865.1:c.595C>A	ENSP00000513463.1:p.Arg199=
ENST00000697866.1:c.334C>A	ENSP00000513464.1:p.Arg112=
ENST00000697867.1:c.630C>A
ENST00000697868.1:c.*416C>A	ENSP00000513466.1:n.*416C>A
ENST00000697897.1:c.652C>A	ENSP00000513469.1:p.Arg218=
ENST00000246868.7:c.652C>A MANE Select	ENSP00000246868.2:p.Arg218=
ENST00000246868.6:c.652C>A	ENSP00000246868.2:p.Arg218=
ENST00000414306.5:c.*383C>A	ENSP00000394586.1:n.*383C>A
ENST00000617799.1:c.652C>A	ENSP00000483040.1:p.Arg218=
NM_016038.2:c.652C>A , LRG_104t1:c.652C>A	NP_057122.2:p.Arg218=
NM_016038.3:c.652C>A	NP_057122.2:p.Arg218=
NM_016038.4:c.652C>A MANE Select	NP_057122.2:p.Arg218=