Canonical Allele Identifier: CA367650408

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458352A>G (hg19) ; chr7:g.66993365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993365A>G , CM000669.2:g.66993365A>G	GRCh38
NC_000007.13:g.66458352A>G , CM000669.1:g.66458352A>G	GRCh37
NC_000007.12:g.66095787A>G	NCBI36
NG_007277.1:g.7237T>C , LRG_104:g.7237T>C
NG_033069.1:g.1561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*42T>C	ENSP00000394586.1:n.*42T>C
ENST00000697860.1:n.278T>C
ENST00000697861.1:c.258+847T>C	ENSP00000513460.1:n.258+847T>C
ENST00000697862.1:c.311T>C	ENSP00000513461.1:p.Leu104Pro
ENST00000697863.1:c.254T>C	ENSP00000513462.1:p.Leu85Pro
ENST00000697864.1:n.1455T>C
ENST00000697865.1:c.254T>C	ENSP00000513463.1:p.Leu85Pro
ENST00000697866.1:c.-8T>C	ENSP00000513464.1:n.-8T>C
ENST00000697867.1:c.151T>C
ENST00000697868.1:c.*75T>C	ENSP00000513466.1:n.*75T>C
ENST00000697869.1:c.*46T>C	ENSP00000513467.1:n.*46T>C
ENST00000697897.1:c.311T>C	ENSP00000513469.1:p.Leu104Pro
ENST00000246868.7:c.311T>C MANE Select	ENSP00000246868.2:p.Leu104Pro
ENST00000246868.6:c.311T>C	ENSP00000246868.2:p.Leu104Pro
ENST00000414306.5:c.*42T>C	ENSP00000394586.1:n.*42T>C
ENST00000463579.1:n.200T>C
ENST00000490953.5:n.452T>C
ENST00000617799.1:c.311T>C	ENSP00000483040.1:p.Leu104Pro
NM_016038.2:c.311T>C , LRG_104t1:c.311T>C	NP_057122.2:p.Leu104Pro
NM_016038.3:c.311T>C	NP_057122.2:p.Leu104Pro
NM_016038.4:c.311T>C MANE Select	NP_057122.2:p.Leu104Pro