Canonical Allele Identifier: CA360094202

Gene: SMN1

Linked Data

• ClinVar Variation Id: 870142
• ClinVar RCV Id: RCV001089661
• dbSNP Id: rs1749441633
• MyVariant Identifiers: chr5:g.70238290T>C (hg19) ; chr5:g.70942463T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942463T>C , CM000667.2:g.70942463T>C	GRCh38
NC_000005.9:g.70238290T>C , CM000667.1:g.70238290T>C	GRCh37
NC_000005.8:g.70274046T>C	NCBI36
NG_008691.1:g.22523T>C , LRG_676:g.22523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.379T>C MANE Select	ENSP00000370083.4:p.Tyr127His
ENST00000351205.8:c.379T>C	ENSP00000305857.5:p.Tyr127His
ENST00000380707.8:c.379T>C	ENSP00000370083.4:p.Tyr127His
ENST00000503079.6:c.379T>C	ENSP00000428128.1:p.Tyr127His
ENST00000506163.5:c.379T>C	ENSP00000424926.1:p.Tyr127His
ENST00000506239.6:c.379T>C	ENSP00000422679.2:p.Tyr127His
ENST00000514951.5:c.274-255T>C	ENSP00000423298.1:n.274-255T>C
ENST00000625245.2:c.379T>C	ENSP00000486539.1:p.Tyr127His
NM_000344.3:c.379T>C , LRG_676t1:c.379T>C	NP_000335.1:p.Tyr127His
NM_001297715.1:c.379T>C	NP_001284644.1:p.Tyr127His
NM_022874.2:c.379T>C	NP_075012.1:p.Tyr127His
XM_011543596.1:c.379T>C	XP_011541898.1:p.Tyr127His
XM_011543597.1:c.274-255T>C	XP_011541899.1:n.274-255T>C
XM_011543598.1:c.274-255T>C	XP_011541900.1:n.274-255T>C
XM_011543598.3:c.274-255T>C	XP_011541900.1:n.274-255T>C
XM_017009786.1:c.379T>C	XP_016865275.1:p.Tyr127His
NM_000344.4:c.379T>C MANE Select	NP_000335.1:p.Tyr127His