Canonical Allele Identifier: CA16044072
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448429
ClinVar RCV Id: RCV000516476
dbSNP Id: rs79784540
MyVariant Identifiers: chr5:g.70240540T>A (hg19) chr5:g.70944713T>A (hg38)
PubMed: PMID:11574104 PMID:22994313 PMID:24085424 PMID:27425821
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70944713T>A , CM000667.2:g.70944713T>A GRCh38
NC_000005.9:g.70240540T>A , CM000667.1:g.70240540T>A GRCh37
NC_000005.8:g.70276296T>A NCBI36
NG_008691.1:g.24773T>A , LRG_676:g.24773T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.683T>A MANE Select ENSP00000370083.4:p.Leu228Ter
ENST00000351205.8:c.683T>A ENSP00000305857.5:p.Leu228Ter
ENST00000380707.8:c.683T>A ENSP00000370083.4:p.Leu228Ter
ENST00000503079.6:c.628-1353T>A ENSP00000428128.1:n.628-1353T>A
ENST00000506163.5:c.683T>A ENSP00000424926.1:p.Leu228Ter
ENST00000506239.6:c.683T>A ENSP00000422679.2:p.Leu228Ter
ENST00000507905.6:c.377T>A ENSP00000430657.1:n.377T>A
ENST00000513228.1:n.250T>A
ENST00000514951.5:c.482T>A ENSP00000423298.1:p.Leu161Ter
ENST00000518504.5:n.241-1353T>A
ENST00000625245.2:c.683T>A ENSP00000486539.1:p.Leu228Ter
NM_000344.3:c.683T>A , LRG_676t1:c.683T>A NP_000335.1:p.Leu228Ter
NM_001297715.1:c.683T>A NP_001284644.1:p.Leu228Ter
NM_022874.2:c.628-1353T>A NP_075012.1:n.628-1353T>A
XM_011543596.1:c.683T>A XP_011541898.1:p.Leu228Ter
XM_011543597.1:c.482T>A XP_011541899.1:p.Leu161Ter
XM_011543598.1:c.427-1353T>A XP_011541900.1:n.427-1353T>A
XM_011543598.3:c.427-1353T>A XP_011541900.1:n.427-1353T>A
XM_017009786.1:c.628-1353T>A XP_016865275.1:n.628-1353T>A
NM_000344.4:c.683T>A MANE Select NP_000335.1:p.Leu228Ter
Search 100 bp 5'
Search 100 bp 3'