Canonical Allele Identifier: CA1554172362
Gene: SMN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946207A= , CM000667.2:g.70946207A= GRCh38
NC_000005.9:g.70242034A= , CM000667.1:g.70242034A= GRCh37
NC_000005.8:g.70277790A= NCBI36
NG_008691.1:g.26267A= , LRG_676:g.26267A=

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.834+31A= MANE Select ENSP00000370083.4:n.834+31A=
ENST00000351205.8:c.834+31A= ENSP00000305857.5:n.834+31A=
ENST00000380707.8:c.834+31A= ENSP00000370083.4:n.834+31A=
ENST00000503079.6:c.738+31A= ENSP00000428128.1:n.738+31A=
ENST00000506163.5:c.834+31A= ENSP00000424926.1:n.834+31A=
ENST00000506239.6:c.834+31A= ENSP00000422679.2:n.834+31A=
ENST00000510679.1:n.88+31A=
ENST00000513228.1:n.432A=
ENST00000514951.5:c.633+31A= ENSP00000423298.1:n.633+31A=
ENST00000518504.5:n.382A=
ENST00000625245.2:c.834+31A= ENSP00000486539.1:n.834+31A=
NM_000344.3:c.834+31A= , LRG_676t1:c.834+31A= NP_000335.1:n.834+31A=
NM_001297715.1:c.834+31A= NP_001284644.1:n.834+31A=
NM_022874.2:c.738+31A= NP_075012.1:n.738+31A=
XM_011543596.1:c.834+31A= XP_011541898.1:n.834+31A=
XM_011543597.1:c.633+31A= XP_011541899.1:n.633+31A=
XM_011543598.1:c.537+31A= XP_011541900.1:n.537+31A=
XM_011543598.3:c.537+31A= XP_011541900.1:n.537+31A=
XM_017009786.1:c.738+31A= XP_016865275.1:n.738+31A=
NM_000344.4:c.834+31A= MANE Select NP_000335.1:n.834+31A=