Canonical Allele Identifier: CA658796532

Gene: SMN1

Linked Data

• ClinVar Variation Id: 527330
• ClinVar RCV Id: RCV000632189 ; RCV001175473
• dbSNP Id: rs1554082376
• MyVariant Identifiers: chr5:g.70247764dup (hg19) ; chr5:g.70951937dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951937dup , CM000667.2:g.70951937dup	GRCh38
NC_000005.9:g.70247764dup , CM000667.1:g.70247764dup	GRCh37
NC_000005.8:g.70283520dup	NCBI36
NG_008691.1:g.31997dup , LRG_676:g.31997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-4dup MANE Select	ENSP00000370083.4:n.835-4dup
ENST00000351205.8:c.835-4dup	ENSP00000305857.5:n.835-4dup
ENST00000380707.8:c.835-4dup	ENSP00000370083.4:n.835-4dup
ENST00000503079.6:c.739-4dup	ENSP00000428128.1:n.739-4dup
ENST00000506163.5:c.835-502dup	ENSP00000424926.1:n.835-502dup
ENST00000506239.6:c.*59-502dup	ENSP00000422679.2:n.*59-502dup
ENST00000510679.1:n.89-4dup
ENST00000514951.5:c.634-4dup	ENSP00000423298.1:n.634-4dup
NM_000344.3:c.835-4dup , LRG_676t1:c.835-4dup	NP_000335.1:n.835-4dup
NM_001297715.1:c.835-502dup	NP_001284644.1:n.835-502dup
NM_022874.2:c.739-4dup	NP_075012.1:n.739-4dup
XM_011543597.1:c.634-4dup	XP_011541899.1:n.634-4dup
XM_011543598.1:c.538-4dup	XP_011541900.1:n.538-4dup
XM_011543598.3:c.538-4dup	XP_011541900.1:n.538-4dup
XM_017009786.1:c.739-502dup	XP_016865275.1:n.739-502dup
NM_000344.4:c.835-4dup MANE Select	NP_000335.1:n.835-4dup