Canonical Allele Identifier: CA254685
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9173
dbSNP Id: rs77804083

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942389G>A , CM000667.2:g.70942389G>A GRCh38
NC_000005.9:g.70238216G>A , CM000667.1:g.70238216G>A GRCh37
NC_000005.8:g.70273972G>A NCBI36
NG_008691.1:g.22449G>A , LRG_676:g.22449G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.305G>A MANE Select ENSP00000370083.4:p.Trp102Ter
ENST00000351205.8:n.305G>A ENSP00000305857.5:p.Trp102Ter
ENST00000380707.8:c.305G>A ENSP00000370083.4:p.Trp102Ter
ENST00000503079.6:c.305G>A ENSP00000428128.1:p.Trp102Ter
ENST00000506163.5:c.305G>A ENSP00000424926.1:p.Trp102Ter
ENST00000506239.6:c.305G>A ENSP00000422679.2:p.Trp102Ter
ENST00000514951.5:c.274-329G>A ENSP00000423298.1:p.=
ENST00000625245.2:n.305G>A ENSP00000486539.1:p.Trp102Ter
NM_000344.3:c.305G>A , LRG_676t1:c.305G>A NP_000335.1:p.Trp102Ter
NM_001297715.1:c.305G>A NP_001284644.1:p.Trp102Ter
NM_022874.2:c.305G>A NP_075012.1:p.Trp102Ter
XM_011543596.1:c.305G>A XP_011541898.1:p.Trp102Ter
XM_011543597.1:c.274-329G>A XP_011541899.1:p.=
XM_011543598.1:c.274-329G>A XP_011541900.1:p.=
XM_011543598.3:c.274-329G>A XP_011541900.1:p.=
XM_017009786.1:c.305G>A XP_016865275.1:p.Trp102Ter
NM_000344.4:c.305G>A MANE Select NP_000335.1:p.Trp102Ter