Canonical Allele Identifier: CA254690
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9176
ClinVar RCV Id: RCV000009753 RCV000785814
dbSNP Id: rs104893927
MyVariant Identifiers: chr5:g.70238194G>C (hg19) chr5:g.70942367G>C (hg38)
PubMed: PMID:15580564
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942367G>C , CM000667.2:g.70942367G>C GRCh38
NC_000005.9:g.70238194G>C , CM000667.1:g.70238194G>C GRCh37
NC_000005.8:g.70273950G>C NCBI36
NG_008691.1:g.22427G>C , LRG_676:g.22427G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.283G>C MANE Select ENSP00000370083.4:p.Gly95Arg
ENST00000351205.8:c.283G>C ENSP00000305857.5:p.Gly95Arg
ENST00000380707.8:c.283G>C ENSP00000370083.4:p.Gly95Arg
ENST00000503079.6:c.283G>C ENSP00000428128.1:p.Gly95Arg
ENST00000506163.5:c.283G>C ENSP00000424926.1:p.Gly95Arg
ENST00000506239.6:c.283G>C ENSP00000422679.2:p.Gly95Arg
ENST00000514951.5:c.274-351G>C ENSP00000423298.1:n.274-351G>C
ENST00000625245.2:c.283G>C ENSP00000486539.1:p.Gly95Arg
NM_000344.3:c.283G>C , LRG_676t1:c.283G>C NP_000335.1:p.Gly95Arg
NM_001297715.1:c.283G>C NP_001284644.1:p.Gly95Arg
NM_022874.2:c.283G>C NP_075012.1:p.Gly95Arg
XM_011543596.1:c.283G>C XP_011541898.1:p.Gly95Arg
XM_011543597.1:c.274-351G>C XP_011541899.1:n.274-351G>C
XM_011543598.1:c.274-351G>C XP_011541900.1:n.274-351G>C
XM_011543598.3:c.274-351G>C XP_011541900.1:n.274-351G>C
XM_017009786.1:c.283G>C XP_016865275.1:p.Gly95Arg
NM_000344.4:c.283G>C MANE Select NP_000335.1:p.Gly95Arg
Search 100 bp 5'
Search 100 bp 3'