Canonical Allele Identifier: CA254683
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9172
ClinVar RCV Id: RCV000009745
dbSNP Id: rs104893931

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70938888A>T , CM000667.2:g.70938888A>T GRCh38
NC_000005.9:g.70234715A>T , CM000667.1:g.70234715A>T GRCh37
NC_000005.8:g.70270471A>T NCBI36
NG_008691.1:g.18948A>T , LRG_676:g.18948A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351205.8:n.131A>T ENSP00000305857.5:p.Asp44Val
ENST00000380707.8:c.131A>T ENSP00000370083.4:p.Asp44Val
ENST00000503079.6:c.131A>T ENSP00000428128.1:p.Asp44Val
ENST00000506163.5:c.131A>T ENSP00000424926.1:p.Asp44Val
ENST00000506239.6:c.131A>T ENSP00000422679.2:p.Asp44Val
ENST00000514951.5:c.131A>T ENSP00000423298.1:p.Asp44Val
ENST00000625245.2:n.131A>T ENSP00000486539.1:p.Asp44Val
NM_000344.3:c.131A>T , LRG_676t1:c.131A>T NP_000335.1:p.Asp44Val
NM_001297715.1:c.131A>T NP_001284644.1:p.Asp44Val
NM_022874.2:c.131A>T NP_075012.1:p.Asp44Val
XM_011543596.1:c.131A>T XP_011541898.1:p.Asp44Val
XM_011543597.1:c.131A>T XP_011541899.1:p.Asp44Val
XM_011543598.1:c.131A>T XP_011541900.1:p.Asp44Val
XM_011543598.3:c.131A>T XP_011541900.1:p.Asp44Val
XM_017009786.1:c.131A>T XP_016865275.1:p.Asp44Val
NM_000344.4:c.131A>T MANE Select NP_000335.1:p.Asp44Val