Canonical Allele Identifier: CA360094159

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70238284G>C (hg19) ; chr5:g.70942457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942457G>C , CM000667.2:g.70942457G>C	GRCh38
NC_000005.9:g.70238284G>C , CM000667.1:g.70238284G>C	GRCh37
NC_000005.8:g.70274040G>C	NCBI36
NG_008691.1:g.22517G>C , LRG_676:g.22517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.373G>C MANE Select	ENSP00000370083.4:p.Val125Leu
ENST00000351205.8:c.373G>C	ENSP00000305857.5:p.Val125Leu
ENST00000380707.8:c.373G>C	ENSP00000370083.4:p.Val125Leu
ENST00000503079.6:c.373G>C	ENSP00000428128.1:p.Val125Leu
ENST00000506163.5:c.373G>C	ENSP00000424926.1:p.Val125Leu
ENST00000506239.6:c.373G>C	ENSP00000422679.2:p.Val125Leu
ENST00000514951.5:c.274-261G>C	ENSP00000423298.1:n.274-261G>C
ENST00000625245.2:c.373G>C	ENSP00000486539.1:p.Val125Leu
NM_000344.3:c.373G>C , LRG_676t1:c.373G>C	NP_000335.1:p.Val125Leu
NM_001297715.1:c.373G>C	NP_001284644.1:p.Val125Leu
NM_022874.2:c.373G>C	NP_075012.1:p.Val125Leu
XM_011543596.1:c.373G>C	XP_011541898.1:p.Val125Leu
XM_011543597.1:c.274-261G>C	XP_011541899.1:n.274-261G>C
XM_011543598.1:c.274-261G>C	XP_011541900.1:n.274-261G>C
XM_011543598.3:c.274-261G>C	XP_011541900.1:n.274-261G>C
XM_017009786.1:c.373G>C	XP_016865275.1:p.Val125Leu
NM_000344.4:c.373G>C MANE Select	NP_000335.1:p.Val125Leu