Canonical Allele Identifier: CA120725213
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2690717
ClinVar RCV Id: RCV003489437
dbSNP Id: rs77301881
MyVariant Identifiers: chr5:g.70241992G>A (hg19) chr5:g.70946165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946165G>A , CM000667.2:g.70946165G>A GRCh38
NC_000005.9:g.70241992G>A , CM000667.1:g.70241992G>A GRCh37
NC_000005.8:g.70277748G>A NCBI36
NG_008691.1:g.26225G>A , LRG_676:g.26225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.823G>A MANE Select ENSP00000370083.4:p.Gly275Ser
ENST00000351205.8:c.823G>A ENSP00000305857.5:p.Gly275Ser
ENST00000380707.8:c.823G>A ENSP00000370083.4:p.Gly275Ser
ENST00000503079.6:c.727G>A ENSP00000428128.1:p.Gly243Ser
ENST00000506163.5:c.823G>A ENSP00000424926.1:p.Gly275Ser
ENST00000506239.6:c.823G>A ENSP00000422679.2:p.Gly275Ser
ENST00000510679.1:n.77G>A
ENST00000513228.1:n.390G>A
ENST00000514951.5:c.622G>A ENSP00000423298.1:p.Gly208Ser
ENST00000518504.5:n.340G>A
ENST00000625245.2:c.823G>A ENSP00000486539.1:p.Gly275Ser
NM_000344.3:c.823G>A , LRG_676t1:c.823G>A NP_000335.1:p.Gly275Ser
NM_001297715.1:c.823G>A NP_001284644.1:p.Gly275Ser
NM_022874.2:c.727G>A NP_075012.1:p.Gly243Ser
XM_011543596.1:c.823G>A XP_011541898.1:p.Gly275Ser
XM_011543597.1:c.622G>A XP_011541899.1:p.Gly208Ser
XM_011543598.1:c.526G>A XP_011541900.1:p.Gly176Ser
XM_011543598.3:c.526G>A XP_011541900.1:p.Gly176Ser
XM_017009786.1:c.727G>A XP_016865275.1:p.Gly243Ser
NM_000344.4:c.823G>A MANE Select NP_000335.1:p.Gly275Ser
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