Canonical Allele Identifier: CA367644544

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453464C>A (hg19) ; chr7:g.66988477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988477C>A , CM000669.2:g.66988477C>A	GRCh38
NC_000007.13:g.66453464C>A , CM000669.1:g.66453464C>A	GRCh37
NC_000007.12:g.66090899C>A	NCBI36
NG_007277.1:g.12125G>T , LRG_104:g.12125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*378G>T	ENSP00000394586.1:n.*378G>T
ENST00000697860.1:n.614G>T
ENST00000697861.1:c.446G>T	ENSP00000513460.1:p.Cys149Phe
ENST00000697862.1:c.*88G>T	ENSP00000513461.1:n.*88G>T
ENST00000697863.1:c.590G>T	ENSP00000513462.1:p.Cys197Phe
ENST00000697864.1:n.1791G>T
ENST00000697865.1:c.590G>T	ENSP00000513463.1:p.Cys197Phe
ENST00000697866.1:c.329G>T	ENSP00000513464.1:p.Cys110Phe
ENST00000697867.1:c.625G>T
ENST00000697868.1:c.*411G>T	ENSP00000513466.1:n.*411G>T
ENST00000697897.1:c.647G>T	ENSP00000513469.1:p.Cys216Phe
ENST00000246868.7:c.647G>T MANE Select	ENSP00000246868.2:p.Cys216Phe
ENST00000246868.6:c.647G>T	ENSP00000246868.2:p.Cys216Phe
ENST00000414306.5:c.*378G>T	ENSP00000394586.1:n.*378G>T
ENST00000617799.1:c.647G>T	ENSP00000483040.1:p.Cys216Phe
NM_016038.2:c.647G>T , LRG_104t1:c.647G>T	NP_057122.2:p.Cys216Phe
NM_016038.3:c.647G>T	NP_057122.2:p.Cys216Phe
NM_016038.4:c.647G>T MANE Select	NP_057122.2:p.Cys216Phe