Canonical Allele Identifier: CA367646910

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66456250C>A (hg19) ; chr7:g.66991263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66991263C>A , CM000669.2:g.66991263C>A	GRCh38
NC_000007.13:g.66456250C>A , CM000669.1:g.66456250C>A	GRCh37
NC_000007.12:g.66093685C>A	NCBI36
NG_007277.1:g.9339G>T , LRG_104:g.9339G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*229G>T	ENSP00000394586.1:n.*229G>T
ENST00000697860.1:n.465G>T
ENST00000697861.1:c.297G>T	ENSP00000513460.1:p.Lys99Asn
ENST00000697862.1:c.460-41G>T	ENSP00000513461.1:n.460-41G>T
ENST00000697863.1:c.441G>T	ENSP00000513462.1:p.Lys147Asn
ENST00000697864.1:n.1642G>T
ENST00000697865.1:c.441G>T	ENSP00000513463.1:p.Lys147Asn
ENST00000697866.1:c.180G>T	ENSP00000513464.1:p.Lys60Asn
ENST00000697867.1:c.338G>T
ENST00000697868.1:c.*262G>T	ENSP00000513466.1:n.*262G>T
ENST00000697897.1:c.498G>T	ENSP00000513469.1:p.Lys166Asn
ENST00000246868.7:c.498G>T MANE Select	ENSP00000246868.2:p.Lys166Asn
ENST00000246868.6:c.498G>T	ENSP00000246868.2:p.Lys166Asn
ENST00000414306.5:c.*229G>T	ENSP00000394586.1:n.*229G>T
ENST00000463579.1:n.387G>T
ENST00000490953.5:n.639G>T
ENST00000617799.1:c.498G>T	ENSP00000483040.1:p.Lys166Asn
NM_016038.2:c.498G>T , LRG_104t1:c.498G>T	NP_057122.2:p.Lys166Asn
NM_016038.3:c.498G>T	NP_057122.2:p.Lys166Asn
NM_016038.4:c.498G>T MANE Select	NP_057122.2:p.Lys166Asn