Canonical Allele Identifier: CA360096636

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241911C>G (hg19) ; chr5:g.70946084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946084C>G , CM000667.2:g.70946084C>G	GRCh38
NC_000005.9:g.70241911C>G , CM000667.1:g.70241911C>G	GRCh37
NC_000005.8:g.70277667C>G	NCBI36
NG_008691.1:g.26144C>G , LRG_676:g.26144C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.742C>G MANE Select	ENSP00000370083.4:p.Pro248Ala
ENST00000351205.8:c.742C>G	ENSP00000305857.5:p.Pro248Ala
ENST00000380707.8:c.742C>G	ENSP00000370083.4:p.Pro248Ala
ENST00000503079.6:c.646C>G	ENSP00000428128.1:p.Pro216Ala
ENST00000506163.5:c.742C>G	ENSP00000424926.1:p.Pro248Ala
ENST00000506239.6:c.742C>G	ENSP00000422679.2:p.Pro248Ala
ENST00000513228.1:n.309C>G
ENST00000514951.5:c.541C>G	ENSP00000423298.1:p.Pro181Ala
ENST00000518504.5:n.259C>G
ENST00000625245.2:c.742C>G	ENSP00000486539.1:p.Pro248Ala
NM_000344.3:c.742C>G , LRG_676t1:c.742C>G	NP_000335.1:p.Pro248Ala
NM_001297715.1:c.742C>G	NP_001284644.1:p.Pro248Ala
NM_022874.2:c.646C>G	NP_075012.1:p.Pro216Ala
XM_011543596.1:c.742C>G	XP_011541898.1:p.Pro248Ala
XM_011543597.1:c.541C>G	XP_011541899.1:p.Pro181Ala
XM_011543598.1:c.445C>G	XP_011541900.1:p.Pro149Ala
XM_011543598.3:c.445C>G	XP_011541900.1:p.Pro149Ala
XM_017009786.1:c.646C>G	XP_016865275.1:p.Pro216Ala
NM_000344.4:c.742C>G MANE Select	NP_000335.1:p.Pro248Ala