Canonical Allele Identifier: CA3295119

Gene: SMN1

Linked Data

• dbSNP Id: rs761035766
• ExAC: 5:70247784 A / C
• gnomAD v2: 5-70247784-A-C
• gnomAD v4: 5-70951957-A-C
• MyVariant Identifiers: chr5:g.70247784A>C (hg19) ; chr5:g.70951957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951957A>C , CM000667.2:g.70951957A>C	GRCh38
NC_000005.9:g.70247784A>C , CM000667.1:g.70247784A>C	GRCh37
NC_000005.8:g.70283540A>C	NCBI36
NG_008691.1:g.32017A>C , LRG_676:g.32017A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.851A>C MANE Select	ENSP00000370083.4:p.Gln284Pro
ENST00000351205.8:c.851A>C	ENSP00000305857.5:p.Gln284Pro
ENST00000380707.8:c.851A>C	ENSP00000370083.4:p.Gln284Pro
ENST00000503079.6:c.755A>C	ENSP00000428128.1:p.Gln252Pro
ENST00000506163.5:c.835-482A>C	ENSP00000424926.1:n.835-482A>C
ENST00000506239.6:c.*59-482A>C	ENSP00000422679.2:n.*59-482A>C
ENST00000510679.1:n.105A>C
ENST00000514951.5:c.650A>C	ENSP00000423298.1:p.Gln217Pro
NM_000344.3:c.851A>C , LRG_676t1:c.851A>C	NP_000335.1:p.Gln284Pro
NM_001297715.1:c.835-482A>C	NP_001284644.1:n.835-482A>C
NM_022874.2:c.755A>C	NP_075012.1:p.Gln252Pro
XM_011543597.1:c.650A>C	XP_011541899.1:p.Gln217Pro
XM_011543598.1:c.554A>C	XP_011541900.1:p.Gln185Pro
XM_011543598.3:c.554A>C	XP_011541900.1:p.Gln185Pro
XM_017009786.1:c.739-482A>C	XP_016865275.1:n.739-482A>C
NM_000344.4:c.851A>C MANE Select	NP_000335.1:p.Gln284Pro