Canonical Allele Identifier: CA367650137

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458323T>G (hg19) ; chr7:g.66993336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993336T>G , CM000669.2:g.66993336T>G	GRCh38
NC_000007.13:g.66458323T>G , CM000669.1:g.66458323T>G	GRCh37
NC_000007.12:g.66095758T>G	NCBI36
NG_007277.1:g.7266A>C , LRG_104:g.7266A>C
NG_033069.1:g.1532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*71A>C	ENSP00000394586.1:n.*71A>C
ENST00000697860.1:n.307A>C
ENST00000697861.1:c.258+876A>C	ENSP00000513460.1:n.258+876A>C
ENST00000697862.1:c.340A>C	ENSP00000513461.1:p.Ile114Leu
ENST00000697863.1:c.283A>C	ENSP00000513462.1:p.Ile95Leu
ENST00000697864.1:n.1484A>C
ENST00000697865.1:c.283A>C	ENSP00000513463.1:p.Ile95Leu
ENST00000697866.1:c.22A>C	ENSP00000513464.1:p.Ile8Leu
ENST00000697867.1:c.180A>C
ENST00000697868.1:c.*104A>C	ENSP00000513466.1:n.*104A>C
ENST00000697869.1:c.*75A>C	ENSP00000513467.1:n.*75A>C
ENST00000697897.1:c.340A>C	ENSP00000513469.1:p.Ile114Leu
ENST00000246868.7:c.340A>C MANE Select	ENSP00000246868.2:p.Ile114Leu
ENST00000246868.6:c.340A>C	ENSP00000246868.2:p.Ile114Leu
ENST00000414306.5:c.*71A>C	ENSP00000394586.1:n.*71A>C
ENST00000463579.1:n.229A>C
ENST00000490953.5:n.481A>C
ENST00000617799.1:c.340A>C	ENSP00000483040.1:p.Ile114Leu
NM_016038.2:c.340A>C , LRG_104t1:c.340A>C	NP_057122.2:p.Ile114Leu
NM_016038.3:c.340A>C	NP_057122.2:p.Ile114Leu
NM_016038.4:c.340A>C MANE Select	NP_057122.2:p.Ile114Leu