Canonical Allele Identifier: CA360097381
Gene: SMN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946176G>A , CM000667.2:g.70946176G>A GRCh38
NC_000005.9:g.70242003G>A , CM000667.1:g.70242003G>A GRCh37
NC_000005.8:g.70277759G>A NCBI36
NG_008691.1:g.26236G>A , LRG_676:g.26236G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.834G>A MANE Select ENSP00000370083.4:p.Met278Ile
ENST00000351205.8:c.834G>A ENSP00000305857.5:p.Met278Ile
ENST00000380707.8:c.834G>A ENSP00000370083.4:p.Met278Ile
ENST00000503079.6:c.738G>A ENSP00000428128.1:p.Met246Ile
ENST00000506163.5:c.834G>A ENSP00000424926.1:p.Met278Ile
ENST00000506239.6:c.834G>A ENSP00000422679.2:p.Met278Ile
ENST00000510679.1:n.88G>A
ENST00000513228.1:n.401G>A
ENST00000514951.5:c.633G>A ENSP00000423298.1:p.Met211Ile
ENST00000518504.5:n.351G>A
ENST00000625245.2:c.834G>A ENSP00000486539.1:p.Met278Ile
NM_000344.3:c.834G>A , LRG_676t1:c.834G>A NP_000335.1:p.Met278Ile
NM_001297715.1:c.834G>A NP_001284644.1:p.Met278Ile
NM_022874.2:c.738G>A NP_075012.1:p.Met246Ile
XM_011543596.1:c.834G>A XP_011541898.1:p.Met278Ile
XM_011543597.1:c.633G>A XP_011541899.1:p.Met211Ile
XM_011543598.1:c.537G>A XP_011541900.1:p.Met179Ile
XM_011543598.3:c.537G>A XP_011541900.1:p.Met179Ile
XM_017009786.1:c.738G>A XP_016865275.1:p.Met246Ile
NM_000344.4:c.834G>A MANE Select NP_000335.1:p.Met278Ile