Canonical Allele Identifier: CA367650879

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993412-C-A
• MyVariant Identifiers: chr7:g.66458399C>A (hg19) ; chr7:g.66993412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993412C>A , CM000669.2:g.66993412C>A	GRCh38
NC_000007.13:g.66458399C>A , CM000669.1:g.66458399C>A	GRCh37
NC_000007.12:g.66095834C>A	NCBI36
NG_007277.1:g.7190G>T , LRG_104:g.7190G>T
NG_033069.1:g.1608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.256G>T	ENSP00000394586.1:p.Asp86Tyr
ENST00000697860.1:n.231G>T
ENST00000697861.1:c.258+800G>T	ENSP00000513460.1:n.258+800G>T
ENST00000697862.1:c.264G>T	ENSP00000513461.1:p.Leu88Phe
ENST00000697863.1:c.207G>T	ENSP00000513462.1:p.Leu69Phe
ENST00000697864.1:n.1408G>T
ENST00000697865.1:c.207G>T	ENSP00000513463.1:p.Leu69Phe
ENST00000697866.1:c.-55G>T	ENSP00000513464.1:n.-55G>T
ENST00000697867.1:c.104G>T
ENST00000697868.1:c.*28G>T	ENSP00000513466.1:n.*28G>T
ENST00000697869.1:c.200G>T	ENSP00000513467.1:p.Ter67Leu
ENST00000697897.1:c.264G>T	ENSP00000513469.1:p.Leu88Phe
ENST00000246868.7:c.264G>T MANE Select	ENSP00000246868.2:p.Leu88Phe
ENST00000246868.6:c.264G>T	ENSP00000246868.2:p.Leu88Phe
ENST00000414306.5:c.256G>T	ENSP00000394586.1:p.Asp86Tyr
ENST00000463579.1:n.153G>T
ENST00000490953.5:n.405G>T
ENST00000617799.1:c.264G>T	ENSP00000483040.1:p.Leu88Phe
NM_016038.2:c.264G>T , LRG_104t1:c.264G>T	NP_057122.2:p.Leu88Phe
NM_016038.3:c.264G>T	NP_057122.2:p.Leu88Phe
NM_016038.4:c.264G>T MANE Select	NP_057122.2:p.Leu88Phe