Canonical Allele Identifier: CA367649701

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458269G>C (hg19) ; chr7:g.66993282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993282G>C , CM000669.2:g.66993282G>C	GRCh38
NC_000007.13:g.66458269G>C , CM000669.1:g.66458269G>C	GRCh37
NC_000007.12:g.66095704G>C	NCBI36
NG_007277.1:g.7320C>G , LRG_104:g.7320C>G
NG_033069.1:g.1478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*125C>G	ENSP00000394586.1:n.*125C>G
ENST00000697860.1:n.361C>G
ENST00000697861.1:c.258+930C>G	ENSP00000513460.1:n.258+930C>G
ENST00000697862.1:c.394C>G	ENSP00000513461.1:p.Leu132Val
ENST00000697863.1:c.337C>G	ENSP00000513462.1:p.Leu113Val
ENST00000697864.1:n.1538C>G
ENST00000697865.1:c.337C>G	ENSP00000513463.1:p.Leu113Val
ENST00000697866.1:c.76C>G	ENSP00000513464.1:p.Leu26Val
ENST00000697867.1:c.234C>G
ENST00000697868.1:c.*158C>G	ENSP00000513466.1:n.*158C>G
ENST00000697869.1:c.*129C>G	ENSP00000513467.1:n.*129C>G
ENST00000697897.1:c.394C>G	ENSP00000513469.1:p.Leu132Val
ENST00000246868.7:c.394C>G MANE Select	ENSP00000246868.2:p.Leu132Val
ENST00000246868.6:c.394C>G	ENSP00000246868.2:p.Leu132Val
ENST00000414306.5:c.*125C>G	ENSP00000394586.1:n.*125C>G
ENST00000463579.1:n.283C>G
ENST00000490953.5:n.535C>G
ENST00000617799.1:c.394C>G	ENSP00000483040.1:p.Leu132Val
NM_016038.2:c.394C>G , LRG_104t1:c.394C>G	NP_057122.2:p.Leu132Val
NM_016038.3:c.394C>G	NP_057122.2:p.Leu132Val
NM_016038.4:c.394C>G MANE Select	NP_057122.2:p.Leu132Val