Canonical Allele Identifier: CA367650690

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993393-C-G
• MyVariant Identifiers: chr7:g.66458380C>G (hg19) ; chr7:g.66993393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993393C>G , CM000669.2:g.66993393C>G	GRCh38
NC_000007.13:g.66458380C>G , CM000669.1:g.66458380C>G	GRCh37
NC_000007.12:g.66095815C>G	NCBI36
NG_007277.1:g.7209G>C , LRG_104:g.7209G>C
NG_033069.1:g.1589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*14G>C	ENSP00000394586.1:n.*14G>C
ENST00000697860.1:n.250G>C
ENST00000697861.1:c.258+819G>C	ENSP00000513460.1:n.258+819G>C
ENST00000697862.1:c.283G>C	ENSP00000513461.1:p.Val95Leu
ENST00000697863.1:c.226G>C	ENSP00000513462.1:p.Val76Leu
ENST00000697864.1:n.1427G>C
ENST00000697865.1:c.226G>C	ENSP00000513463.1:p.Val76Leu
ENST00000697866.1:c.-36G>C	ENSP00000513464.1:n.-36G>C
ENST00000697867.1:c.123G>C
ENST00000697868.1:c.*47G>C	ENSP00000513466.1:n.*47G>C
ENST00000697869.1:c.*18G>C	ENSP00000513467.1:n.*18G>C
ENST00000697897.1:c.283G>C	ENSP00000513469.1:p.Val95Leu
ENST00000246868.7:c.283G>C MANE Select	ENSP00000246868.2:p.Val95Leu
ENST00000246868.6:c.283G>C	ENSP00000246868.2:p.Val95Leu
ENST00000414306.5:c.*14G>C	ENSP00000394586.1:n.*14G>C
ENST00000463579.1:n.172G>C
ENST00000490953.5:n.424G>C
ENST00000617799.1:c.283G>C	ENSP00000483040.1:p.Val95Leu
NM_016038.2:c.283G>C , LRG_104t1:c.283G>C	NP_057122.2:p.Val95Leu
NM_016038.3:c.283G>C	NP_057122.2:p.Val95Leu
NM_016038.4:c.283G>C MANE Select	NP_057122.2:p.Val95Leu