Canonical Allele Identifier: CA254675
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9165
ClinVar RCV Id: RCV000009736 RCV000713373
dbSNP Id: rs1554066659
MyVariant Identifiers: chr5:g.70241954G>T (hg19) chr5:g.70946127G>T (hg38)
PubMed: PMID:9158159
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946127G>T , CM000667.2:g.70946127G>T GRCh38
NC_000005.9:g.70241954G>T , CM000667.1:g.70241954G>T GRCh37
NC_000005.8:g.70277710G>T NCBI36
NG_008691.1:g.26187G>T , LRG_676:g.26187G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.785G>T MANE Select ENSP00000370083.4:p.Ser262Ile
ENST00000351205.8:c.785G>T ENSP00000305857.5:p.Ser262Ile
ENST00000380707.8:c.785G>T ENSP00000370083.4:p.Ser262Ile
ENST00000503079.6:c.689G>T ENSP00000428128.1:p.Ser230Ile
ENST00000506163.5:c.785G>T ENSP00000424926.1:p.Ser262Ile
ENST00000506239.6:c.785G>T ENSP00000422679.2:p.Ser262Ile
ENST00000510679.1:n.39G>T
ENST00000513228.1:n.352G>T
ENST00000514951.5:c.584G>T ENSP00000423298.1:p.Ser195Ile
ENST00000518504.5:n.302G>T
ENST00000625245.2:c.785G>T ENSP00000486539.1:p.Ser262Ile
NM_000344.3:c.785G>T , LRG_676t1:c.785G>T NP_000335.1:p.Ser262Ile
NM_001297715.1:c.785G>T NP_001284644.1:p.Ser262Ile
NM_022874.2:c.689G>T NP_075012.1:p.Ser230Ile
XM_011543596.1:c.785G>T XP_011541898.1:p.Ser262Ile
XM_011543597.1:c.584G>T XP_011541899.1:p.Ser195Ile
XM_011543598.1:c.488G>T XP_011541900.1:p.Ser163Ile
XM_011543598.3:c.488G>T XP_011541900.1:p.Ser163Ile
XM_017009786.1:c.689G>T XP_016865275.1:p.Ser230Ile
NM_000344.4:c.785G>T MANE Select NP_000335.1:p.Ser262Ile
Search 100 bp 5'
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