Canonical Allele Identifier: CA3295117

Gene: SMN1

Linked Data

• ClinVar Variation Id: 495829
• ClinVar RCV Id: RCV000586221 ; RCV000785808 ; RCV000798141 ; RCV001290445
• dbSNP Id: rs772466166
• ExAC: 5:70247765 C / T
• gnomAD v2: 5-70247765-C-T
• gnomAD v4: 5-70951938-C-T
• MyVariant Identifiers: chr5:g.70247765C>T (hg19) ; chr5:g.70951938C>T (hg38)
• PubMed: PMID:21542063

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951938C>T , CM000667.2:g.70951938C>T	GRCh38
NC_000005.9:g.70247765C>T , CM000667.1:g.70247765C>T	GRCh37
NC_000005.8:g.70283521C>T	NCBI36
NG_008691.1:g.31998C>T , LRG_676:g.31998C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-3C>T MANE Select	ENSP00000370083.4:n.835-3C>T
ENST00000351205.8:c.835-3C>T	ENSP00000305857.5:n.835-3C>T
ENST00000380707.8:c.835-3C>T	ENSP00000370083.4:n.835-3C>T
ENST00000503079.6:c.739-3C>T	ENSP00000428128.1:n.739-3C>T
ENST00000506163.5:c.835-501C>T	ENSP00000424926.1:n.835-501C>T
ENST00000506239.6:c.*59-501C>T	ENSP00000422679.2:n.*59-501C>T
ENST00000510679.1:n.89-3C>T
ENST00000514951.5:c.634-3C>T	ENSP00000423298.1:n.634-3C>T
NM_000344.3:c.835-3C>T , LRG_676t1:c.835-3C>T	NP_000335.1:n.835-3C>T
NM_001297715.1:c.835-501C>T	NP_001284644.1:n.835-501C>T
NM_022874.2:c.739-3C>T	NP_075012.1:n.739-3C>T
XM_011543597.1:c.634-3C>T	XP_011541899.1:n.634-3C>T
XM_011543598.1:c.538-3C>T	XP_011541900.1:n.538-3C>T
XM_011543598.3:c.538-3C>T	XP_011541900.1:n.538-3C>T
XM_017009786.1:c.739-501C>T	XP_016865275.1:n.739-501C>T
NM_000344.4:c.835-3C>T MANE Select	NP_000335.1:n.835-3C>T