Canonical Allele Identifier: CA367644592

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453472G>T (hg19) ; chr7:g.66988485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988485G>T , CM000669.2:g.66988485G>T	GRCh38
NC_000007.13:g.66453472G>T , CM000669.1:g.66453472G>T	GRCh37
NC_000007.12:g.66090907G>T	NCBI36
NG_007277.1:g.12117C>A , LRG_104:g.12117C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*370C>A	ENSP00000394586.1:n.*370C>A
ENST00000697860.1:n.606C>A
ENST00000697861.1:c.438C>A	ENSP00000513460.1:p.Asp146Glu
ENST00000697862.1:c.*80C>A	ENSP00000513461.1:n.*80C>A
ENST00000697863.1:c.582C>A	ENSP00000513462.1:p.Asp194Glu
ENST00000697864.1:n.1783C>A
ENST00000697865.1:c.582C>A	ENSP00000513463.1:p.Asp194Glu
ENST00000697866.1:c.321C>A	ENSP00000513464.1:p.Asp107Glu
ENST00000697867.1:c.617C>A
ENST00000697868.1:c.*403C>A	ENSP00000513466.1:n.*403C>A
ENST00000697897.1:c.639C>A	ENSP00000513469.1:p.Asp213Glu
ENST00000246868.7:c.639C>A MANE Select	ENSP00000246868.2:p.Asp213Glu
ENST00000246868.6:c.639C>A	ENSP00000246868.2:p.Asp213Glu
ENST00000414306.5:c.*370C>A	ENSP00000394586.1:n.*370C>A
ENST00000617799.1:c.639C>A	ENSP00000483040.1:p.Asp213Glu
NM_016038.2:c.639C>A , LRG_104t1:c.639C>A	NP_057122.2:p.Asp213Glu
NM_016038.3:c.639C>A	NP_057122.2:p.Asp213Glu
NM_016038.4:c.639C>A MANE Select	NP_057122.2:p.Asp213Glu