Canonical Allele Identifier: CA560282545

Gene: SMN1

Linked Data

• dbSNP Id: rs1355896928
• gnomAD v2: 5-70247612-G-T
• gnomAD v3: 5-70951785-G-T
• gnomAD v4: 5-70951785-G-T
• MyVariant Identifiers: chr5:g.70247612G>T (hg19) ; chr5:g.70951785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951785G>T , CM000667.2:g.70951785G>T	GRCh38
NC_000005.9:g.70247612G>T , CM000667.1:g.70247612G>T	GRCh37
NC_000005.8:g.70283368G>T	NCBI36
NG_008691.1:g.31845G>T , LRG_676:g.31845G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-156G>T MANE Select	ENSP00000370083.4:n.835-156G>T
ENST00000351205.8:c.835-156G>T	ENSP00000305857.5:n.835-156G>T
ENST00000380707.8:c.835-156G>T	ENSP00000370083.4:n.835-156G>T
ENST00000503079.6:c.739-156G>T	ENSP00000428128.1:n.739-156G>T
ENST00000506163.5:c.835-654G>T	ENSP00000424926.1:n.835-654G>T
ENST00000506239.6:c.*59-654G>T	ENSP00000422679.2:n.*59-654G>T
ENST00000510679.1:n.89-156G>T
ENST00000514951.5:c.634-156G>T	ENSP00000423298.1:n.634-156G>T
NM_000344.3:c.835-156G>T , LRG_676t1:c.835-156G>T	NP_000335.1:n.835-156G>T
NM_001297715.1:c.835-654G>T	NP_001284644.1:n.835-654G>T
NM_022874.2:c.739-156G>T	NP_075012.1:n.739-156G>T
XM_011543597.1:c.634-156G>T	XP_011541899.1:n.634-156G>T
XM_011543598.1:c.538-156G>T	XP_011541900.1:n.538-156G>T
XM_011543598.3:c.538-156G>T	XP_011541900.1:n.538-156G>T
XM_017009786.1:c.739-654G>T	XP_016865275.1:n.739-654G>T
NM_000344.4:c.835-156G>T MANE Select	NP_000335.1:n.835-156G>T