Canonical Allele Identifier: CA367649836

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458286C>A (hg19) ; chr7:g.66993299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993299C>A , CM000669.2:g.66993299C>A	GRCh38
NC_000007.13:g.66458286C>A , CM000669.1:g.66458286C>A	GRCh37
NC_000007.12:g.66095721C>A	NCBI36
NG_007277.1:g.7303G>T , LRG_104:g.7303G>T
NG_033069.1:g.1495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*108G>T	ENSP00000394586.1:n.*108G>T
ENST00000697860.1:n.344G>T
ENST00000697861.1:c.258+913G>T	ENSP00000513460.1:n.258+913G>T
ENST00000697862.1:c.377G>T	ENSP00000513461.1:p.Arg126Ile
ENST00000697863.1:c.320G>T	ENSP00000513462.1:p.Arg107Ile
ENST00000697864.1:n.1521G>T
ENST00000697865.1:c.320G>T	ENSP00000513463.1:p.Arg107Ile
ENST00000697866.1:c.59G>T	ENSP00000513464.1:p.Arg20Ile
ENST00000697867.1:c.217G>T
ENST00000697868.1:c.*141G>T	ENSP00000513466.1:n.*141G>T
ENST00000697869.1:c.*112G>T	ENSP00000513467.1:n.*112G>T
ENST00000697897.1:c.377G>T	ENSP00000513469.1:p.Arg126Ile
ENST00000246868.7:c.377G>T MANE Select	ENSP00000246868.2:p.Arg126Ile
ENST00000246868.6:c.377G>T	ENSP00000246868.2:p.Arg126Ile
ENST00000414306.5:c.*108G>T	ENSP00000394586.1:n.*108G>T
ENST00000463579.1:n.266G>T
ENST00000490953.5:n.518G>T
ENST00000617799.1:c.377G>T	ENSP00000483040.1:p.Arg126Ile
NM_016038.2:c.377G>T , LRG_104t1:c.377G>T	NP_057122.2:p.Arg126Ile
NM_016038.3:c.377G>T	NP_057122.2:p.Arg126Ile
NM_016038.4:c.377G>T MANE Select	NP_057122.2:p.Arg126Ile