Canonical Allele Identifier: CA560282039

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70925081C>G , CM000667.2:g.70925081C>G	GRCh38
NC_000005.9:g.70220908C>G , CM000667.1:g.70220908C>G	GRCh37
NC_000005.8:g.70256664C>G	NCBI36
NG_008691.1:g.5141C>G , LRG_676:g.5141C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000344.3:c.-23C>G , LRG_676t1:c.-23C>G	NP_000335.1:n.-23C>G
NM_001297715.1:c.-23C>G	NP_001284644.1:n.-23C>G
NM_022874.2:c.-23C>G	NP_075012.1:n.-23C>G
ENST00000380707.8:c.-23C>G	ENSP00000370083.4:n.-23C>G
ENST00000503079.6:c.-23C>G	ENSP00000428128.1:n.-23C>G
ENST00000506239.6:c.-23C>G	ENSP00000422679.2:n.-23C>G
ENST00000514951.5:c.-23C>G	ENSP00000423298.1:n.-23C>G
XM_011543596.1:c.-23C>G	XP_011541898.1:n.-23C>G
XM_011543597.1:c.-23C>G	XP_011541899.1:n.-23C>G
XM_011543598.1:c.-23C>G	XP_011541900.1:n.-23C>G
XM_011543598.3:c.-23C>G	XP_011541900.1:n.-23C>G
XM_017009786.1:c.-23C>G	XP_016865275.1:n.-23C>G