Canonical Allele Identifier: CA367650722

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458383G>A (hg19) ; chr7:g.66993396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993396G>A , CM000669.2:g.66993396G>A	GRCh38
NC_000007.13:g.66458383G>A , CM000669.1:g.66458383G>A	GRCh37
NC_000007.12:g.66095818G>A	NCBI36
NG_007277.1:g.7206C>T , LRG_104:g.7206C>T
NG_033069.1:g.1592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*11C>T	ENSP00000394586.1:n.*11C>T
ENST00000697860.1:n.247C>T
ENST00000697861.1:c.258+816C>T	ENSP00000513460.1:n.258+816C>T
ENST00000697862.1:c.280C>T	ENSP00000513461.1:p.Gln94Ter
ENST00000697863.1:c.223C>T	ENSP00000513462.1:p.Gln75Ter
ENST00000697864.1:n.1424C>T
ENST00000697865.1:c.223C>T	ENSP00000513463.1:p.Gln75Ter
ENST00000697866.1:c.-39C>T	ENSP00000513464.1:n.-39C>T
ENST00000697867.1:c.120C>T
ENST00000697868.1:c.*44C>T	ENSP00000513466.1:n.*44C>T
ENST00000697869.1:c.*15C>T	ENSP00000513467.1:n.*15C>T
ENST00000697897.1:c.280C>T	ENSP00000513469.1:p.Gln94Ter
ENST00000246868.7:c.280C>T MANE Select	ENSP00000246868.2:p.Gln94Ter
ENST00000246868.6:c.280C>T	ENSP00000246868.2:p.Gln94Ter
ENST00000414306.5:c.*11C>T	ENSP00000394586.1:n.*11C>T
ENST00000463579.1:n.169C>T
ENST00000490953.5:n.421C>T
ENST00000617799.1:c.280C>T	ENSP00000483040.1:p.Gln94Ter
NM_016038.2:c.280C>T , LRG_104t1:c.280C>T	NP_057122.2:p.Gln94Ter
NM_016038.3:c.280C>T	NP_057122.2:p.Gln94Ter
NM_016038.4:c.280C>T MANE Select	NP_057122.2:p.Gln94Ter