Canonical Allele Identifier: CA254673

Gene: SMN1

Linked Data

• ClinVar Variation Id: 9164
• ClinVar RCV Id: RCV000009734 ; RCV000009735 ; RCV000517430
• dbSNP Id: rs1554066666
• MyVariant Identifiers: chr5:g.70241990C>T (hg19) ; chr5:g.70946163C>T (hg38)
• PubMed: PMID:9158159 ; PMID:9590291 ; PMID:9837824 ; PMID:10205265 ; PMID:11704667 ; PMID:14715275 ; PMID:15580564 ; PMID:17475491 ; PMID:20057317 ; PMID:21209906 ; PMID:21673580 ; PMID:21920940 ; PMID:22813737 ; PMID:24844453 ; PMID:25144193

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946163C>T , CM000667.2:g.70946163C>T	GRCh38
NC_000005.9:g.70241990C>T , CM000667.1:g.70241990C>T	GRCh37
NC_000005.8:g.70277746C>T	NCBI36
NG_008691.1:g.26223C>T , LRG_676:g.26223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.821C>T MANE Select	ENSP00000370083.4:p.Thr274Ile
ENST00000351205.8:c.821C>T	ENSP00000305857.5:p.Thr274Ile
ENST00000380707.8:c.821C>T	ENSP00000370083.4:p.Thr274Ile
ENST00000503079.6:c.725C>T	ENSP00000428128.1:p.Thr242Ile
ENST00000506163.5:c.821C>T	ENSP00000424926.1:p.Thr274Ile
ENST00000506239.6:c.821C>T	ENSP00000422679.2:p.Thr274Ile
ENST00000510679.1:n.75C>T
ENST00000513228.1:n.388C>T
ENST00000514951.5:c.620C>T	ENSP00000423298.1:p.Thr207Ile
ENST00000518504.5:n.338C>T
ENST00000625245.2:c.821C>T	ENSP00000486539.1:p.Thr274Ile
NM_000344.3:c.821C>T , LRG_676t1:c.821C>T	NP_000335.1:p.Thr274Ile
NM_001297715.1:c.821C>T	NP_001284644.1:p.Thr274Ile
NM_022874.2:c.725C>T	NP_075012.1:p.Thr242Ile
XM_011543596.1:c.821C>T	XP_011541898.1:p.Thr274Ile
XM_011543597.1:c.620C>T	XP_011541899.1:p.Thr207Ile
XM_011543598.1:c.524C>T	XP_011541900.1:p.Thr175Ile
XM_011543598.3:c.524C>T	XP_011541900.1:p.Thr175Ile
XM_017009786.1:c.725C>T	XP_016865275.1:p.Thr242Ile
NM_000344.4:c.821C>T MANE Select	NP_000335.1:p.Thr274Ile