Canonical Allele Identifier: CA360098119

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70247771T>G (hg19) ; chr5:g.70951944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951944T>G , CM000667.2:g.70951944T>G	GRCh38
NC_000005.9:g.70247771T>G , CM000667.1:g.70247771T>G	GRCh37
NC_000005.8:g.70283527T>G	NCBI36
NG_008691.1:g.32004T>G , LRG_676:g.32004T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.838T>G MANE Select	ENSP00000370083.4:p.Phe280Val
ENST00000351205.8:c.838T>G	ENSP00000305857.5:p.Phe280Val
ENST00000380707.8:c.838T>G	ENSP00000370083.4:p.Phe280Val
ENST00000503079.6:c.742T>G	ENSP00000428128.1:p.Phe248Val
ENST00000506163.5:c.835-495T>G	ENSP00000424926.1:n.835-495T>G
ENST00000506239.6:c.*59-495T>G	ENSP00000422679.2:n.*59-495T>G
ENST00000510679.1:n.92T>G
ENST00000514951.5:c.637T>G	ENSP00000423298.1:p.Phe213Val
NM_000344.3:c.838T>G , LRG_676t1:c.838T>G	NP_000335.1:p.Phe280Val
NM_001297715.1:c.835-495T>G	NP_001284644.1:n.835-495T>G
NM_022874.2:c.742T>G	NP_075012.1:p.Phe248Val
XM_011543597.1:c.637T>G	XP_011541899.1:p.Phe213Val
XM_011543598.1:c.541T>G	XP_011541900.1:p.Phe181Val
XM_011543598.3:c.541T>G	XP_011541900.1:p.Phe181Val
XM_017009786.1:c.739-495T>G	XP_016865275.1:n.739-495T>G
NM_000344.4:c.838T>G MANE Select	NP_000335.1:p.Phe280Val