Canonical Allele Identifier: CA367644533

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66453462A>G (hg19) ; chr7:g.66988475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988475A>G , CM000669.2:g.66988475A>G	GRCh38
NC_000007.13:g.66453462A>G , CM000669.1:g.66453462A>G	GRCh37
NC_000007.12:g.66090897A>G	NCBI36
NG_007277.1:g.12127T>C , LRG_104:g.12127T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*380T>C	ENSP00000394586.1:n.*380T>C
ENST00000697860.1:n.616T>C
ENST00000697861.1:c.448T>C	ENSP00000513460.1:p.Phe150Leu
ENST00000697862.1:c.*90T>C	ENSP00000513461.1:n.*90T>C
ENST00000697863.1:c.592T>C	ENSP00000513462.1:p.Phe198Leu
ENST00000697864.1:n.1793T>C
ENST00000697865.1:c.592T>C	ENSP00000513463.1:p.Phe198Leu
ENST00000697866.1:c.331T>C	ENSP00000513464.1:p.Phe111Leu
ENST00000697867.1:c.627T>C
ENST00000697868.1:c.*413T>C	ENSP00000513466.1:n.*413T>C
ENST00000697897.1:c.649T>C	ENSP00000513469.1:p.Phe217Leu
ENST00000246868.7:c.649T>C MANE Select	ENSP00000246868.2:p.Phe217Leu
ENST00000246868.6:c.649T>C	ENSP00000246868.2:p.Phe217Leu
ENST00000414306.5:c.*380T>C	ENSP00000394586.1:n.*380T>C
ENST00000617799.1:c.649T>C	ENSP00000483040.1:p.Phe217Leu
NM_016038.2:c.649T>C , LRG_104t1:c.649T>C	NP_057122.2:p.Phe217Leu
NM_016038.3:c.649T>C	NP_057122.2:p.Phe217Leu
NM_016038.4:c.649T>C MANE Select	NP_057122.2:p.Phe217Leu