Canonical Allele Identifier: CA367643976

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453367T>A (hg19) ; chr7:g.66988380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988380T>A , CM000669.2:g.66988380T>A	GRCh38
NC_000007.13:g.66453367T>A , CM000669.1:g.66453367T>A	GRCh37
NC_000007.12:g.66090802T>A	NCBI36
NG_007277.1:g.12222A>T , LRG_104:g.12222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*475A>T	ENSP00000394586.1:n.*475A>T
ENST00000697860.1:n.711A>T
ENST00000697861.1:c.543A>T	ENSP00000513460.1:p.Lys181Asn
ENST00000697862.1:c.*185A>T	ENSP00000513461.1:n.*185A>T
ENST00000697863.1:c.687A>T	ENSP00000513462.1:p.Lys229Asn
ENST00000697864.1:n.1888A>T
ENST00000697865.1:c.687A>T	ENSP00000513463.1:p.Lys229Asn
ENST00000697866.1:c.426A>T	ENSP00000513464.1:p.Lys142Asn
ENST00000697867.1:c.722A>T
ENST00000697868.1:c.*508A>T	ENSP00000513466.1:n.*508A>T
ENST00000697897.1:c.744A>T	ENSP00000513469.1:p.Lys248Asn
ENST00000246868.7:c.744A>T MANE Select	ENSP00000246868.2:p.Lys248Asn
ENST00000246868.6:c.744A>T	ENSP00000246868.2:p.Lys248Asn
ENST00000414306.5:c.*475A>T	ENSP00000394586.1:n.*475A>T
ENST00000617799.1:c.744A>T	ENSP00000483040.1:p.Lys248Asn
NM_016038.2:c.744A>T , LRG_104t1:c.744A>T	NP_057122.2:p.Lys248Asn
NM_016038.3:c.744A>T	NP_057122.2:p.Lys248Asn
NM_016038.4:c.744A>T MANE Select	NP_057122.2:p.Lys248Asn