Canonical Allele Identifier: CA367643923

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988372-C-A
• MyVariant Identifiers: chr7:g.66453359C>A (hg19) ; chr7:g.66988372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988372C>A , CM000669.2:g.66988372C>A	GRCh38
NC_000007.13:g.66453359C>A , CM000669.1:g.66453359C>A	GRCh37
NC_000007.12:g.66090794C>A	NCBI36
NG_007277.1:g.12230G>T , LRG_104:g.12230G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*483G>T	ENSP00000394586.1:n.*483G>T
ENST00000697860.1:n.719G>T
ENST00000697861.1:c.551G>T	ENSP00000513460.1:p.Ter184Leu
ENST00000697862.1:c.*193G>T	ENSP00000513461.1:n.*193G>T
ENST00000697863.1:c.695G>T	ENSP00000513462.1:p.Ter232Leu
ENST00000697864.1:n.1896G>T
ENST00000697865.1:c.695G>T	ENSP00000513463.1:p.Ter232Leu
ENST00000697866.1:c.434G>T	ENSP00000513464.1:p.Ter145Leu
ENST00000697867.1:c.730G>T
ENST00000697868.1:c.*516G>T	ENSP00000513466.1:n.*516G>T
ENST00000697897.1:c.752G>T	ENSP00000513469.1:p.Ter251Leu
ENST00000246868.7:c.752G>T MANE Select	ENSP00000246868.2:p.Ter251Leu
ENST00000246868.6:c.752G>T	ENSP00000246868.2:p.Ter251Leu
ENST00000414306.5:c.*483G>T	ENSP00000394586.1:n.*483G>T
ENST00000617799.1:c.752G>T	ENSP00000483040.1:p.Ter251Leu
NM_016038.2:c.752G>T , LRG_104t1:c.752G>T	NP_057122.2:p.Ter251Leu
NM_016038.3:c.752G>T	NP_057122.2:p.Ter251Leu
NM_016038.4:c.752G>T MANE Select	NP_057122.2:p.Ter251Leu