Canonical Allele Identifier: CA367644574

Gene: SBDS

Linked Data

• dbSNP Id: rs1217811332
• gnomAD v2: 7-66453470-G-A
• gnomAD v4: 7-66988483-G-A
• MyVariant Identifiers: chr7:g.66453470G>A (hg19) ; chr7:g.66988483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988483G>A , CM000669.2:g.66988483G>A	GRCh38
NC_000007.13:g.66453470G>A , CM000669.1:g.66453470G>A	GRCh37
NC_000007.12:g.66090905G>A	NCBI36
NG_007277.1:g.12119C>T , LRG_104:g.12119C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*372C>T	ENSP00000394586.1:n.*372C>T
ENST00000697860.1:n.608C>T
ENST00000697861.1:c.440C>T	ENSP00000513460.1:p.Pro147Leu
ENST00000697862.1:c.*82C>T	ENSP00000513461.1:n.*82C>T
ENST00000697863.1:c.584C>T	ENSP00000513462.1:p.Pro195Leu
ENST00000697864.1:n.1785C>T
ENST00000697865.1:c.584C>T	ENSP00000513463.1:p.Pro195Leu
ENST00000697866.1:c.323C>T	ENSP00000513464.1:p.Pro108Leu
ENST00000697867.1:c.619C>T
ENST00000697868.1:c.*405C>T	ENSP00000513466.1:n.*405C>T
ENST00000697897.1:c.641C>T	ENSP00000513469.1:p.Pro214Leu
ENST00000246868.7:c.641C>T MANE Select	ENSP00000246868.2:p.Pro214Leu
ENST00000246868.6:c.641C>T	ENSP00000246868.2:p.Pro214Leu
ENST00000414306.5:c.*372C>T	ENSP00000394586.1:n.*372C>T
ENST00000617799.1:c.641C>T	ENSP00000483040.1:p.Pro214Leu
NM_016038.2:c.641C>T , LRG_104t1:c.641C>T	NP_057122.2:p.Pro214Leu
NM_016038.3:c.641C>T	NP_057122.2:p.Pro214Leu
NM_016038.4:c.641C>T MANE Select	NP_057122.2:p.Pro214Leu