Canonical Allele Identifier: CA813584273

Gene: SMN1

Linked Data

• dbSNP Id: rs1350262722
• gnomAD v3: 5-70946253-C-T
• gnomAD v4: 5-70946253-C-T
• MyVariant Identifiers: chr5:g.70242080C>T (hg19) ; chr5:g.70946253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946253C>T , CM000667.2:g.70946253C>T	GRCh38
NC_000005.9:g.70242080C>T , CM000667.1:g.70242080C>T	GRCh37
NC_000005.8:g.70277836C>T	NCBI36
NG_008691.1:g.26313C>T , LRG_676:g.26313C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.834+77C>T MANE Select	ENSP00000370083.4:n.834+77C>T
ENST00000351205.8:c.834+77C>T	ENSP00000305857.5:n.834+77C>T
ENST00000380707.8:c.834+77C>T	ENSP00000370083.4:n.834+77C>T
ENST00000503079.6:c.738+77C>T	ENSP00000428128.1:n.738+77C>T
ENST00000506163.5:c.834+77C>T	ENSP00000424926.1:n.834+77C>T
ENST00000506239.6:c.834+77C>T	ENSP00000422679.2:n.834+77C>T
ENST00000510679.1:n.88+77C>T
ENST00000513228.1:n.478C>T
ENST00000514951.5:c.633+77C>T	ENSP00000423298.1:n.633+77C>T
ENST00000518504.5:n.428C>T
ENST00000625245.2:c.834+77C>T	ENSP00000486539.1:n.834+77C>T
NM_000344.3:c.834+77C>T , LRG_676t1:c.834+77C>T	NP_000335.1:n.834+77C>T
NM_001297715.1:c.834+77C>T	NP_001284644.1:n.834+77C>T
NM_022874.2:c.738+77C>T	NP_075012.1:n.738+77C>T
XM_011543596.1:c.834+77C>T	XP_011541898.1:n.834+77C>T
XM_011543597.1:c.633+77C>T	XP_011541899.1:n.633+77C>T
XM_011543598.1:c.537+77C>T	XP_011541900.1:n.537+77C>T
XM_011543598.3:c.537+77C>T	XP_011541900.1:n.537+77C>T
XM_017009786.1:c.738+77C>T	XP_016865275.1:n.738+77C>T
NM_000344.4:c.834+77C>T MANE Select	NP_000335.1:n.834+77C>T