Canonical Allele Identifier: CA367644318

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453429T>C (hg19) ; chr7:g.66988442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988442T>C , CM000669.2:g.66988442T>C	GRCh38
NC_000007.13:g.66453429T>C , CM000669.1:g.66453429T>C	GRCh37
NC_000007.12:g.66090864T>C	NCBI36
NG_007277.1:g.12160A>G , LRG_104:g.12160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*413A>G	ENSP00000394586.1:n.*413A>G
ENST00000697860.1:n.649A>G
ENST00000697861.1:c.481A>G	ENSP00000513460.1:p.Thr161Ala
ENST00000697862.1:c.*123A>G	ENSP00000513461.1:n.*123A>G
ENST00000697863.1:c.625A>G	ENSP00000513462.1:p.Thr209Ala
ENST00000697864.1:n.1826A>G
ENST00000697865.1:c.625A>G	ENSP00000513463.1:p.Thr209Ala
ENST00000697866.1:c.364A>G	ENSP00000513464.1:p.Thr122Ala
ENST00000697867.1:c.660A>G
ENST00000697868.1:c.*446A>G	ENSP00000513466.1:n.*446A>G
ENST00000697897.1:c.682A>G	ENSP00000513469.1:p.Thr228Ala
ENST00000246868.7:c.682A>G MANE Select	ENSP00000246868.2:p.Thr228Ala
ENST00000246868.6:c.682A>G	ENSP00000246868.2:p.Thr228Ala
ENST00000414306.5:c.*413A>G	ENSP00000394586.1:n.*413A>G
ENST00000617799.1:c.682A>G	ENSP00000483040.1:p.Thr228Ala
NM_016038.2:c.682A>G , LRG_104t1:c.682A>G	NP_057122.2:p.Thr228Ala
NM_016038.3:c.682A>G	NP_057122.2:p.Thr228Ala
NM_016038.4:c.682A>G MANE Select	NP_057122.2:p.Thr228Ala