Canonical Allele Identifier: CA367649769

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458278T>A (hg19) ; chr7:g.66993291T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993291T>A , CM000669.2:g.66993291T>A	GRCh38
NC_000007.13:g.66458278T>A , CM000669.1:g.66458278T>A	GRCh37
NC_000007.12:g.66095713T>A	NCBI36
NG_007277.1:g.7311A>T , LRG_104:g.7311A>T
NG_033069.1:g.1487T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*116A>T	ENSP00000394586.1:n.*116A>T
ENST00000697860.1:n.352A>T
ENST00000697861.1:c.258+921A>T	ENSP00000513460.1:n.258+921A>T
ENST00000697862.1:c.385A>T	ENSP00000513461.1:p.Thr129Ser
ENST00000697863.1:c.328A>T	ENSP00000513462.1:p.Thr110Ser
ENST00000697864.1:n.1529A>T
ENST00000697865.1:c.328A>T	ENSP00000513463.1:p.Thr110Ser
ENST00000697866.1:c.67A>T	ENSP00000513464.1:p.Thr23Ser
ENST00000697867.1:c.225A>T
ENST00000697868.1:c.*149A>T	ENSP00000513466.1:n.*149A>T
ENST00000697869.1:c.*120A>T	ENSP00000513467.1:n.*120A>T
ENST00000697897.1:c.385A>T	ENSP00000513469.1:p.Thr129Ser
ENST00000246868.7:c.385A>T MANE Select	ENSP00000246868.2:p.Thr129Ser
ENST00000246868.6:c.385A>T	ENSP00000246868.2:p.Thr129Ser
ENST00000414306.5:c.*116A>T	ENSP00000394586.1:n.*116A>T
ENST00000463579.1:n.274A>T
ENST00000490953.5:n.526A>T
ENST00000617799.1:c.385A>T	ENSP00000483040.1:p.Thr129Ser
NM_016038.2:c.385A>T , LRG_104t1:c.385A>T	NP_057122.2:p.Thr129Ser
NM_016038.3:c.385A>T	NP_057122.2:p.Thr129Ser
NM_016038.4:c.385A>T MANE Select	NP_057122.2:p.Thr129Ser