Canonical Allele Identifier: CA360093290

Gene: SMN1

Linked Data

• ClinVar Variation Id: 638580
• ClinVar RCV Id: RCV000791267
• dbSNP Id: rs1580886828
• MyVariant Identifiers: chr5:g.70238189A>C (hg19) ; chr5:g.70942362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942362A>C , CM000667.2:g.70942362A>C	GRCh38
NC_000005.9:g.70238189A>C , CM000667.1:g.70238189A>C	GRCh37
NC_000005.8:g.70273945A>C	NCBI36
NG_008691.1:g.22422A>C , LRG_676:g.22422A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.278A>C MANE Select	ENSP00000370083.4:p.Lys93Thr
ENST00000351205.8:c.278A>C	ENSP00000305857.5:p.Lys93Thr
ENST00000380707.8:c.278A>C	ENSP00000370083.4:p.Lys93Thr
ENST00000503079.6:c.278A>C	ENSP00000428128.1:p.Lys93Thr
ENST00000506163.5:c.278A>C	ENSP00000424926.1:p.Lys93Thr
ENST00000506239.6:c.278A>C	ENSP00000422679.2:p.Lys93Thr
ENST00000514951.5:c.274-356A>C	ENSP00000423298.1:n.274-356A>C
ENST00000625245.2:c.278A>C	ENSP00000486539.1:p.Lys93Thr
NM_000344.3:c.278A>C , LRG_676t1:c.278A>C	NP_000335.1:p.Lys93Thr
NM_001297715.1:c.278A>C	NP_001284644.1:p.Lys93Thr
NM_022874.2:c.278A>C	NP_075012.1:p.Lys93Thr
XM_011543596.1:c.278A>C	XP_011541898.1:p.Lys93Thr
XM_011543597.1:c.274-356A>C	XP_011541899.1:n.274-356A>C
XM_011543598.1:c.274-356A>C	XP_011541900.1:n.274-356A>C
XM_011543598.3:c.274-356A>C	XP_011541900.1:n.274-356A>C
XM_017009786.1:c.278A>C	XP_016865275.1:p.Lys93Thr
NM_000344.4:c.278A>C MANE Select	NP_000335.1:p.Lys93Thr