Canonical Allele Identifier: CA560282264

Gene: SMN1

Linked Data

• dbSNP Id: rs1268635687
• gnomAD v2: 5-70241839-C-T
• gnomAD v3: 5-70946012-C-T
• gnomAD v4: 5-70946012-C-T
• MyVariant Identifiers: chr5:g.70241839C>T (hg19) ; chr5:g.70946012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946012C>T , CM000667.2:g.70946012C>T	GRCh38
NC_000005.9:g.70241839C>T , CM000667.1:g.70241839C>T	GRCh37
NC_000005.8:g.70277595C>T	NCBI36
NG_008691.1:g.26072C>T , LRG_676:g.26072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.724-54C>T MANE Select	ENSP00000370083.4:n.724-54C>T
ENST00000351205.8:c.724-54C>T	ENSP00000305857.5:n.724-54C>T
ENST00000380707.8:c.724-54C>T	ENSP00000370083.4:n.724-54C>T
ENST00000503079.6:c.628-54C>T	ENSP00000428128.1:n.628-54C>T
ENST00000506163.5:c.724-54C>T	ENSP00000424926.1:n.724-54C>T
ENST00000506239.6:c.724-54C>T	ENSP00000422679.2:n.724-54C>T
ENST00000507905.6:c.418-54C>T	ENSP00000430657.1:n.418-54C>T
ENST00000513228.1:n.291-54C>T
ENST00000514951.5:c.523-54C>T	ENSP00000423298.1:n.523-54C>T
ENST00000518504.5:n.241-54C>T
ENST00000625245.2:c.724-54C>T	ENSP00000486539.1:n.724-54C>T
NM_000344.3:c.724-54C>T , LRG_676t1:c.724-54C>T	NP_000335.1:n.724-54C>T
NM_001297715.1:c.724-54C>T	NP_001284644.1:n.724-54C>T
NM_022874.2:c.628-54C>T	NP_075012.1:n.628-54C>T
XM_011543596.1:c.724-54C>T	XP_011541898.1:n.724-54C>T
XM_011543597.1:c.523-54C>T	XP_011541899.1:n.523-54C>T
XM_011543598.1:c.427-54C>T	XP_011541900.1:n.427-54C>T
XM_011543598.3:c.427-54C>T	XP_011541900.1:n.427-54C>T
XM_017009786.1:c.628-54C>T	XP_016865275.1:n.628-54C>T
NM_000344.4:c.724-54C>T MANE Select	NP_000335.1:n.724-54C>T