Canonical Allele Identifier: CA444972078
Gene: SMN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70241895A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946068A>T , CM000667.2:g.70946068A>T GRCh38
NC_000005.9:g.70241895A>T , CM000667.1:g.70241895A>T GRCh37
NC_000005.8:g.70277651A>T NCBI36
NG_008691.1:g.26128A>T , LRG_676:g.26128A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.726A>T MANE Select ENSP00000370083.4:p.Ile242=
ENST00000351205.8:c.726A>T ENSP00000305857.5:p.Ile242=
ENST00000380707.8:c.726A>T ENSP00000370083.4:p.Ile242=
ENST00000503079.6:c.630A>T ENSP00000428128.1:p.Ile210=
ENST00000506163.5:c.726A>T ENSP00000424926.1:p.Ile242=
ENST00000506239.6:c.726A>T ENSP00000422679.2:p.Ile242=
ENST00000507905.6:c.420A>T ENSP00000430657.1:n.420A>T
ENST00000513228.1:n.293A>T
ENST00000514951.5:c.525A>T ENSP00000423298.1:p.Ile175=
ENST00000518504.5:n.243A>T
ENST00000625245.2:c.726A>T ENSP00000486539.1:p.Ile242=
NM_000344.3:c.726A>T , LRG_676t1:c.726A>T NP_000335.1:p.Ile242=
NM_001297715.1:c.726A>T NP_001284644.1:p.Ile242=
NM_022874.2:c.630A>T NP_075012.1:p.Ile210=
XM_011543596.1:c.726A>T XP_011541898.1:p.Ile242=
XM_011543597.1:c.525A>T XP_011541899.1:p.Ile175=
XM_011543598.1:c.429A>T XP_011541900.1:p.Ile143=
XM_011543598.3:c.429A>T XP_011541900.1:p.Ile143=
XM_017009786.1:c.630A>T XP_016865275.1:p.Ile210=
NM_000344.4:c.726A>T MANE Select NP_000335.1:p.Ile242=