Canonical Allele Identifier: CA360098161

Gene: SMN1

Linked Data

• ClinVar Variation Id: 632986
• ClinVar RCV Id: RCV000780723
• dbSNP Id: rs1561503124
• MyVariant Identifiers: chr5:g.70247775G>C (hg19) ; chr5:g.70951948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951948G>C , CM000667.2:g.70951948G>C	GRCh38
NC_000005.9:g.70247775G>C , CM000667.1:g.70247775G>C	GRCh37
NC_000005.8:g.70283531G>C	NCBI36
NG_008691.1:g.32008G>C , LRG_676:g.32008G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.842G>C MANE Select	ENSP00000370083.4:p.Arg281Thr
ENST00000351205.8:c.842G>C	ENSP00000305857.5:p.Arg281Thr
ENST00000380707.8:c.842G>C	ENSP00000370083.4:p.Arg281Thr
ENST00000503079.6:c.746G>C	ENSP00000428128.1:p.Arg249Thr
ENST00000506163.5:c.835-491G>C	ENSP00000424926.1:n.835-491G>C
ENST00000506239.6:c.*59-491G>C	ENSP00000422679.2:n.*59-491G>C
ENST00000510679.1:n.96G>C
ENST00000514951.5:c.641G>C	ENSP00000423298.1:p.Arg214Thr
NM_000344.3:c.842G>C , LRG_676t1:c.842G>C	NP_000335.1:p.Arg281Thr
NM_001297715.1:c.835-491G>C	NP_001284644.1:n.835-491G>C
NM_022874.2:c.746G>C	NP_075012.1:p.Arg249Thr
XM_011543597.1:c.641G>C	XP_011541899.1:p.Arg214Thr
XM_011543598.1:c.545G>C	XP_011541900.1:p.Arg182Thr
XM_011543598.3:c.545G>C	XP_011541900.1:p.Arg182Thr
XM_017009786.1:c.739-491G>C	XP_016865275.1:n.739-491G>C
NM_000344.4:c.842G>C MANE Select	NP_000335.1:p.Arg281Thr