Canonical Allele Identifier: CA658683389

Gene: SMN1

Linked Data

• ClinVar Variation Id: 495823
• ClinVar RCV Id: RCV000590791
• dbSNP Id: rs1554082373
• gnomAD v4: 5-70951923-C-T
• MyVariant Identifiers: chr5:g.70247750C>T (hg19) ; chr5:g.70951923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951923C>T , CM000667.2:g.70951923C>T	GRCh38
NC_000005.9:g.70247750C>T , CM000667.1:g.70247750C>T	GRCh37
NC_000005.8:g.70283506C>T	NCBI36
NG_008691.1:g.31983C>T , LRG_676:g.31983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-18C>T MANE Select	ENSP00000370083.4:n.835-18C>T
ENST00000351205.8:c.835-18C>T	ENSP00000305857.5:n.835-18C>T
ENST00000380707.8:c.835-18C>T	ENSP00000370083.4:n.835-18C>T
ENST00000503079.6:c.739-18C>T	ENSP00000428128.1:n.739-18C>T
ENST00000506163.5:c.835-516C>T	ENSP00000424926.1:n.835-516C>T
ENST00000506239.6:c.*59-516C>T	ENSP00000422679.2:n.*59-516C>T
ENST00000510679.1:n.89-18C>T
ENST00000514951.5:c.634-18C>T	ENSP00000423298.1:n.634-18C>T
NM_000344.3:c.835-18C>T , LRG_676t1:c.835-18C>T	NP_000335.1:n.835-18C>T
NM_001297715.1:c.835-516C>T	NP_001284644.1:n.835-516C>T
NM_022874.2:c.739-18C>T	NP_075012.1:n.739-18C>T
XM_011543597.1:c.634-18C>T	XP_011541899.1:n.634-18C>T
XM_011543598.1:c.538-18C>T	XP_011541900.1:n.538-18C>T
XM_011543598.3:c.538-18C>T	XP_011541900.1:n.538-18C>T
XM_017009786.1:c.739-516C>T	XP_016865275.1:n.739-516C>T
NM_000344.4:c.835-18C>T MANE Select	NP_000335.1:n.835-18C>T