Canonical Allele Identifier: CA254696
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9179
dbSNP Id: rs104893933

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942430A>T , CM000667.2:g.70942430A>T GRCh38
NC_000005.9:g.70238257A>T , CM000667.1:g.70238257A>T GRCh37
NC_000005.8:g.70274013A>T NCBI36
NG_008691.1:g.22490A>T , LRG_676:g.22490A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.346A>T MANE Select ENSP00000370083.4:p.Ile116Phe
ENST00000351205.8:c.346A>T ENSP00000305857.5:p.Ile116Phe
ENST00000380707.8:c.346A>T ENSP00000370083.4:p.Ile116Phe
ENST00000503079.6:c.346A>T ENSP00000428128.1:p.Ile116Phe
ENST00000506163.5:c.346A>T ENSP00000424926.1:p.Ile116Phe
ENST00000506239.6:c.346A>T ENSP00000422679.2:p.Ile116Phe
ENST00000514951.5:c.274-288A>T ENSP00000423298.1:n.274-288A>T
ENST00000625245.2:c.346A>T ENSP00000486539.1:p.Ile116Phe
NM_000344.3:c.346A>T , LRG_676t1:c.346A>T NP_000335.1:p.Ile116Phe
NM_001297715.1:c.346A>T NP_001284644.1:p.Ile116Phe
NM_022874.2:c.346A>T NP_075012.1:p.Ile116Phe
XM_011543596.1:c.346A>T XP_011541898.1:p.Ile116Phe
XM_011543597.1:c.274-288A>T XP_011541899.1:n.274-288A>T
XM_011543598.1:c.274-288A>T XP_011541900.1:n.274-288A>T
XM_011543598.3:c.274-288A>T XP_011541900.1:n.274-288A>T
XM_017009786.1:c.346A>T XP_016865275.1:p.Ile116Phe
NM_000344.4:c.346A>T MANE Select NP_000335.1:p.Ile116Phe