Canonical Allele Identifier: CA367649745

Gene: SBDS

Linked Data

• dbSNP Id: rs201070132
• gnomAD v2: 7-66458275-C-A
• gnomAD v4: 7-66993288-C-A
• MyVariant Identifiers: chr7:g.66458275C>A (hg19) ; chr7:g.66993288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993288C>A , CM000669.2:g.66993288C>A	GRCh38
NC_000007.13:g.66458275C>A , CM000669.1:g.66458275C>A	GRCh37
NC_000007.12:g.66095710C>A	NCBI36
NG_007277.1:g.7314G>T , LRG_104:g.7314G>T
NG_033069.1:g.1484C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*119G>T	ENSP00000394586.1:n.*119G>T
ENST00000697860.1:n.355G>T
ENST00000697861.1:c.258+924G>T	ENSP00000513460.1:n.258+924G>T
ENST00000697862.1:c.388G>T	ENSP00000513461.1:p.Val130Leu
ENST00000697863.1:c.331G>T	ENSP00000513462.1:p.Val111Leu
ENST00000697864.1:n.1532G>T
ENST00000697865.1:c.331G>T	ENSP00000513463.1:p.Val111Leu
ENST00000697866.1:c.70G>T	ENSP00000513464.1:p.Val24Leu
ENST00000697867.1:c.228G>T
ENST00000697868.1:c.*152G>T	ENSP00000513466.1:n.*152G>T
ENST00000697869.1:c.*123G>T	ENSP00000513467.1:n.*123G>T
ENST00000697897.1:c.388G>T	ENSP00000513469.1:p.Val130Leu
ENST00000246868.7:c.388G>T MANE Select	ENSP00000246868.2:p.Val130Leu
ENST00000246868.6:c.388G>T	ENSP00000246868.2:p.Val130Leu
ENST00000414306.5:c.*119G>T	ENSP00000394586.1:n.*119G>T
ENST00000463579.1:n.277G>T
ENST00000490953.5:n.529G>T
ENST00000617799.1:c.388G>T	ENSP00000483040.1:p.Val130Leu
NM_016038.2:c.388G>T , LRG_104t1:c.388G>T	NP_057122.2:p.Val130Leu
NM_016038.3:c.388G>T	NP_057122.2:p.Val130Leu
NM_016038.4:c.388G>T MANE Select	NP_057122.2:p.Val130Leu