Canonical Allele Identifier: CA360096565
Gene: SMN1 HGNC NCBI

Linked Data

gnomAD v4: 5-70946075-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946075C>A , CM000667.2:g.70946075C>A GRCh38
NC_000005.9:g.70241902C>A , CM000667.1:g.70241902C>A GRCh37
NC_000005.8:g.70277658C>A NCBI36
NG_008691.1:g.26135C>A , LRG_676:g.26135C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.733C>A MANE Select ENSP00000370083.4:p.Pro245Thr
ENST00000351205.8:c.733C>A ENSP00000305857.5:p.Pro245Thr
ENST00000380707.8:c.733C>A ENSP00000370083.4:p.Pro245Thr
ENST00000503079.6:c.637C>A ENSP00000428128.1:p.Pro213Thr
ENST00000506163.5:c.733C>A ENSP00000424926.1:p.Pro245Thr
ENST00000506239.6:c.733C>A ENSP00000422679.2:p.Pro245Thr
ENST00000507905.6:c.427C>A ENSP00000430657.1:n.427C>A
ENST00000513228.1:n.300C>A
ENST00000514951.5:c.532C>A ENSP00000423298.1:p.Pro178Thr
ENST00000518504.5:n.250C>A
ENST00000625245.2:c.733C>A ENSP00000486539.1:p.Pro245Thr
NM_000344.3:c.733C>A , LRG_676t1:c.733C>A NP_000335.1:p.Pro245Thr
NM_001297715.1:c.733C>A NP_001284644.1:p.Pro245Thr
NM_022874.2:c.637C>A NP_075012.1:p.Pro213Thr
XM_011543596.1:c.733C>A XP_011541898.1:p.Pro245Thr
XM_011543597.1:c.532C>A XP_011541899.1:p.Pro178Thr
XM_011543598.1:c.436C>A XP_011541900.1:p.Pro146Thr
XM_011543598.3:c.436C>A XP_011541900.1:p.Pro146Thr
XM_017009786.1:c.637C>A XP_016865275.1:p.Pro213Thr
NM_000344.4:c.733C>A MANE Select NP_000335.1:p.Pro245Thr