Canonical Allele Identifier: CA367650812

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458393T>G (hg19) ; chr7:g.66993406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993406T>G , CM000669.2:g.66993406T>G	GRCh38
NC_000007.13:g.66458393T>G , CM000669.1:g.66458393T>G	GRCh37
NC_000007.12:g.66095828T>G	NCBI36
NG_007277.1:g.7196A>C , LRG_104:g.7196A>C
NG_033069.1:g.1602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*1A>C	ENSP00000394586.1:n.*1A>C
ENST00000697860.1:n.237A>C
ENST00000697861.1:c.258+806A>C	ENSP00000513460.1:n.258+806A>C
ENST00000697862.1:c.270A>C	ENSP00000513461.1:p.Lys90Asn
ENST00000697863.1:c.213A>C	ENSP00000513462.1:p.Lys71Asn
ENST00000697864.1:n.1414A>C
ENST00000697865.1:c.213A>C	ENSP00000513463.1:p.Lys71Asn
ENST00000697866.1:c.-49A>C	ENSP00000513464.1:n.-49A>C
ENST00000697867.1:c.110A>C
ENST00000697868.1:c.*34A>C	ENSP00000513466.1:n.*34A>C
ENST00000697869.1:c.*5A>C	ENSP00000513467.1:n.*5A>C
ENST00000697897.1:c.270A>C	ENSP00000513469.1:p.Lys90Asn
ENST00000246868.7:c.270A>C MANE Select	ENSP00000246868.2:p.Lys90Asn
ENST00000246868.6:c.270A>C	ENSP00000246868.2:p.Lys90Asn
ENST00000414306.5:c.*1A>C	ENSP00000394586.1:n.*1A>C
ENST00000463579.1:n.159A>C
ENST00000490953.5:n.411A>C
ENST00000617799.1:c.270A>C	ENSP00000483040.1:p.Lys90Asn
NM_016038.2:c.270A>C , LRG_104t1:c.270A>C	NP_057122.2:p.Lys90Asn
NM_016038.3:c.270A>C	NP_057122.2:p.Lys90Asn
NM_016038.4:c.270A>C MANE Select	NP_057122.2:p.Lys90Asn