Canonical Allele Identifier: CA658657450

Gene: SMN1

Linked Data

• ClinVar Variation Id: 448433
• ClinVar RCV Id: RCV000516576
• dbSNP Id: rs1554081950
• MyVariant Identifiers: chr5:g.70234677_70234680dup (hg19) ; chr5:g.70938850_70938853dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70938850_70938853dup , CM000667.2:g.70938850_70938853dup	GRCh38
NC_000005.9:g.70234677_70234680dup , CM000667.1:g.70234677_70234680dup	GRCh37
NC_000005.8:g.70270433_70270436dup	NCBI36
NG_008691.1:g.18910_18913dup , LRG_676:g.18910_18913dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.93_96dup MANE Select	ENSP00000370083.4:p.Ile33Ter
ENST00000351205.8:c.93_96dup	ENSP00000305857.5:p.Ile33Ter
ENST00000380707.8:c.93_96dup	ENSP00000370083.4:p.Ile33Ter
ENST00000503079.6:c.93_96dup	ENSP00000428128.1:p.Ile33Ter
ENST00000506163.5:c.93_96dup	ENSP00000424926.1:p.Ile33Ter
ENST00000506239.6:c.93_96dup	ENSP00000422679.2:p.Ile33Ter
ENST00000514951.5:c.93_96dup	ENSP00000423298.1:p.Ile33Ter
ENST00000625245.2:c.93_96dup	ENSP00000486539.1:p.Ile33Ter
NM_000344.3:c.93_96dup , LRG_676t1:c.93_96dup	NP_000335.1:p.Ile33Ter
NM_001297715.1:c.93_96dup	NP_001284644.1:p.Ile33Ter
NM_022874.2:c.93_96dup	NP_075012.1:p.Ile33Ter
XM_011543596.1:c.93_96dup	XP_011541898.1:p.Ile33Ter
XM_011543597.1:c.93_96dup	XP_011541899.1:p.Ile33Ter
XM_011543598.1:c.93_96dup	XP_011541900.1:p.Ile33Ter
XM_011543598.3:c.93_96dup	XP_011541900.1:p.Ile33Ter
XM_017009786.1:c.93_96dup	XP_016865275.1:p.Ile33Ter
NM_000344.4:c.93_96dup MANE Select	NP_000335.1:p.Ile33Ter