Canonical Allele Identifier: CA254679
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9167
ClinVar RCV Id: RCV000009738
dbSNP Id: rs76163360
MyVariant Identifiers: chr5:g.70247769G>T (hg19) chr5:g.70951942G>T (hg38)
PubMed: PMID:9147655 PMID:9158159
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70951942G>T , CM000667.2:g.70951942G>T GRCh38
NC_000005.9:g.70247769G>T , CM000667.1:g.70247769G>T GRCh37
NC_000005.8:g.70283525G>T NCBI36
NG_008691.1:g.32002G>T , LRG_676:g.32002G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.836G>T MANE Select ENSP00000370083.4:p.Gly279Val
ENST00000351205.8:c.836G>T ENSP00000305857.5:p.Gly279Val
ENST00000380707.8:c.836G>T ENSP00000370083.4:p.Gly279Val
ENST00000503079.6:c.740G>T ENSP00000428128.1:p.Gly247Val
ENST00000506163.5:c.835-497G>T ENSP00000424926.1:n.835-497G>T
ENST00000506239.6:c.*59-497G>T ENSP00000422679.2:n.*59-497G>T
ENST00000510679.1:n.90G>T
ENST00000514951.5:c.635G>T ENSP00000423298.1:p.Gly212Val
NM_000344.3:c.836G>T , LRG_676t1:c.836G>T NP_000335.1:p.Gly279Val
NM_001297715.1:c.835-497G>T NP_001284644.1:n.835-497G>T
NM_022874.2:c.740G>T NP_075012.1:p.Gly247Val
XM_011543597.1:c.635G>T XP_011541899.1:p.Gly212Val
XM_011543598.1:c.539G>T XP_011541900.1:p.Gly180Val
XM_011543598.3:c.539G>T XP_011541900.1:p.Gly180Val
XM_017009786.1:c.739-497G>T XP_016865275.1:n.739-497G>T
NM_000344.4:c.836G>T MANE Select NP_000335.1:p.Gly279Val
Search 100 bp 5'
Search 100 bp 3'