Canonical Allele Identifier: CA367650293

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458341A>G (hg19) ; chr7:g.66993354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993354A>G , CM000669.2:g.66993354A>G	GRCh38
NC_000007.13:g.66458341A>G , CM000669.1:g.66458341A>G	GRCh37
NC_000007.12:g.66095776A>G	NCBI36
NG_007277.1:g.7248T>C , LRG_104:g.7248T>C
NG_033069.1:g.1550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*53T>C	ENSP00000394586.1:n.*53T>C
ENST00000697860.1:n.289T>C
ENST00000697861.1:c.258+858T>C	ENSP00000513460.1:n.258+858T>C
ENST00000697862.1:c.322T>C	ENSP00000513461.1:p.Phe108Leu
ENST00000697863.1:c.265T>C	ENSP00000513462.1:p.Phe89Leu
ENST00000697864.1:n.1466T>C
ENST00000697865.1:c.265T>C	ENSP00000513463.1:p.Phe89Leu
ENST00000697866.1:c.4T>C	ENSP00000513464.1:p.Phe2Leu
ENST00000697867.1:c.162T>C
ENST00000697868.1:c.*86T>C	ENSP00000513466.1:n.*86T>C
ENST00000697869.1:c.*57T>C	ENSP00000513467.1:n.*57T>C
ENST00000697897.1:c.322T>C	ENSP00000513469.1:p.Phe108Leu
ENST00000246868.7:c.322T>C MANE Select	ENSP00000246868.2:p.Phe108Leu
ENST00000246868.6:c.322T>C	ENSP00000246868.2:p.Phe108Leu
ENST00000414306.5:c.*53T>C	ENSP00000394586.1:n.*53T>C
ENST00000463579.1:n.211T>C
ENST00000490953.5:n.463T>C
ENST00000617799.1:c.322T>C	ENSP00000483040.1:p.Phe108Leu
NM_016038.2:c.322T>C , LRG_104t1:c.322T>C	NP_057122.2:p.Phe108Leu
NM_016038.3:c.322T>C	NP_057122.2:p.Phe108Leu
NM_016038.4:c.322T>C MANE Select	NP_057122.2:p.Phe108Leu