Canonical Allele Identifier: CA560282034

Gene: SMN1

Linked Data

• dbSNP Id: rs1298287287
• gnomAD v2: 5-70220889-A-T
• gnomAD v4: 5-70925062-A-T
• MyVariant Identifiers: chr5:g.70220889A>T (hg19) ; chr5:g.70925062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70925062A>T , CM000667.2:g.70925062A>T	GRCh38
NC_000005.9:g.70220889A>T , CM000667.1:g.70220889A>T	GRCh37
NC_000005.8:g.70256645A>T	NCBI36
NG_008691.1:g.5122A>T , LRG_676:g.5122A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.8:c.-42A>T	ENSP00000370083.4:n.-42A>T
ENST00000503079.6:c.-42A>T	ENSP00000428128.1:n.-42A>T
ENST00000514951.5:c.-42A>T	ENSP00000423298.1:n.-42A>T
NM_000344.3:c.-42A>T , LRG_676t1:c.-42A>T	NP_000335.1:n.-42A>T
NM_001297715.1:c.-42A>T	NP_001284644.1:n.-42A>T
NM_022874.2:c.-42A>T	NP_075012.1:n.-42A>T
XM_011543596.1:c.-42A>T	XP_011541898.1:n.-42A>T
XM_011543597.1:c.-42A>T	XP_011541899.1:n.-42A>T
XM_011543598.1:c.-42A>T	XP_011541900.1:n.-42A>T
XM_011543598.3:c.-42A>T	XP_011541900.1:n.-42A>T
XM_017009786.1:c.-42A>T	XP_016865275.1:n.-42A>T