Canonical Allele Identifier: CA360097121

Gene: SMN1

Linked Data

• ClinVar Variation Id: 448430
• ClinVar RCV Id: RCV000517381 ; RCV002272276
• dbSNP Id: rs1554082113
• MyVariant Identifiers: chr5:g.70241972A>G (hg19) ; chr5:g.70946145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946145A>G , CM000667.2:g.70946145A>G	GRCh38
NC_000005.9:g.70241972A>G , CM000667.1:g.70241972A>G	GRCh37
NC_000005.8:g.70277728A>G	NCBI36
NG_008691.1:g.26205A>G , LRG_676:g.26205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.803A>G MANE Select	ENSP00000370083.4:p.Tyr268Cys
ENST00000351205.8:c.803A>G	ENSP00000305857.5:p.Tyr268Cys
ENST00000380707.8:c.803A>G	ENSP00000370083.4:p.Tyr268Cys
ENST00000503079.6:c.707A>G	ENSP00000428128.1:p.Tyr236Cys
ENST00000506163.5:c.803A>G	ENSP00000424926.1:p.Tyr268Cys
ENST00000506239.6:c.803A>G	ENSP00000422679.2:p.Tyr268Cys
ENST00000510679.1:n.57A>G
ENST00000513228.1:n.370A>G
ENST00000514951.5:c.602A>G	ENSP00000423298.1:p.Tyr201Cys
ENST00000518504.5:n.320A>G
ENST00000625245.2:c.803A>G	ENSP00000486539.1:p.Tyr268Cys
NM_000344.3:c.803A>G , LRG_676t1:c.803A>G	NP_000335.1:p.Tyr268Cys
NM_001297715.1:c.803A>G	NP_001284644.1:p.Tyr268Cys
NM_022874.2:c.707A>G	NP_075012.1:p.Tyr236Cys
XM_011543596.1:c.803A>G	XP_011541898.1:p.Tyr268Cys
XM_011543597.1:c.602A>G	XP_011541899.1:p.Tyr201Cys
XM_011543598.1:c.506A>G	XP_011541900.1:p.Tyr169Cys
XM_011543598.3:c.506A>G	XP_011541900.1:p.Tyr169Cys
XM_017009786.1:c.707A>G	XP_016865275.1:p.Tyr236Cys
NM_000344.4:c.803A>G MANE Select	NP_000335.1:p.Tyr268Cys