Canonical Allele Identifier: CA360098148

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70247774A>T (hg19) ; chr5:g.70951947A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951947A>T , CM000667.2:g.70951947A>T	GRCh38
NC_000005.9:g.70247774A>T , CM000667.1:g.70247774A>T	GRCh37
NC_000005.8:g.70283530A>T	NCBI36
NG_008691.1:g.32007A>T , LRG_676:g.32007A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.841A>T MANE Select	ENSP00000370083.4:p.Arg281Ter
ENST00000351205.8:c.841A>T	ENSP00000305857.5:p.Arg281Ter
ENST00000380707.8:c.841A>T	ENSP00000370083.4:p.Arg281Ter
ENST00000503079.6:c.745A>T	ENSP00000428128.1:p.Arg249Ter
ENST00000506163.5:c.835-492A>T	ENSP00000424926.1:n.835-492A>T
ENST00000506239.6:c.*59-492A>T	ENSP00000422679.2:n.*59-492A>T
ENST00000510679.1:n.95A>T
ENST00000514951.5:c.640A>T	ENSP00000423298.1:p.Arg214Ter
NM_000344.3:c.841A>T , LRG_676t1:c.841A>T	NP_000335.1:p.Arg281Ter
NM_001297715.1:c.835-492A>T	NP_001284644.1:n.835-492A>T
NM_022874.2:c.745A>T	NP_075012.1:p.Arg249Ter
XM_011543597.1:c.640A>T	XP_011541899.1:p.Arg214Ter
XM_011543598.1:c.544A>T	XP_011541900.1:p.Arg182Ter
XM_011543598.3:c.544A>T	XP_011541900.1:p.Arg182Ter
XM_017009786.1:c.739-492A>T	XP_016865275.1:n.739-492A>T
NM_000344.4:c.841A>T MANE Select	NP_000335.1:p.Arg281Ter