Canonical Allele Identifier: CA367650926

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458403A>T (hg19) ; chr7:g.66993416A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993416A>T , CM000669.2:g.66993416A>T	GRCh38
NC_000007.13:g.66458403A>T , CM000669.1:g.66458403A>T	GRCh37
NC_000007.12:g.66095838A>T	NCBI36
NG_007277.1:g.7186T>A , LRG_104:g.7186T>A
NG_033069.1:g.1612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.252T>A	ENSP00000394586.1:p.Tyr84Ter
ENST00000697860.1:n.227T>A
ENST00000697861.1:c.258+796T>A	ENSP00000513460.1:n.258+796T>A
ENST00000697862.1:c.260T>A	ENSP00000513461.1:p.Ile87Asn
ENST00000697863.1:c.203T>A	ENSP00000513462.1:p.Ile68Asn
ENST00000697864.1:n.1404T>A
ENST00000697865.1:c.203T>A	ENSP00000513463.1:p.Ile68Asn
ENST00000697866.1:c.-59T>A	ENSP00000513464.1:n.-59T>A
ENST00000697867.1:c.100T>A
ENST00000697868.1:c.*24T>A	ENSP00000513466.1:n.*24T>A
ENST00000697869.1:c.196T>A	ENSP00000513467.1:p.Phe66Ile
ENST00000697897.1:c.260T>A	ENSP00000513469.1:p.Ile87Asn
ENST00000246868.7:c.260T>A MANE Select	ENSP00000246868.2:p.Ile87Asn
ENST00000246868.6:c.260T>A	ENSP00000246868.2:p.Ile87Asn
ENST00000414306.5:c.252T>A	ENSP00000394586.1:p.Tyr84Ter
ENST00000463579.1:n.149T>A
ENST00000490953.5:n.401T>A
ENST00000617799.1:c.260T>A	ENSP00000483040.1:p.Ile87Asn
NM_016038.2:c.260T>A , LRG_104t1:c.260T>A	NP_057122.2:p.Ile87Asn
NM_016038.3:c.260T>A	NP_057122.2:p.Ile87Asn
NM_016038.4:c.260T>A MANE Select	NP_057122.2:p.Ile87Asn