Canonical Allele Identifier: CA360096930

Gene: SMN1

Linked Data

• gnomAD v4: 5-70946122-G-T
• MyVariant Identifiers: chr5:g.70241949G>T (hg19) ; chr5:g.70946122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946122G>T , CM000667.2:g.70946122G>T	GRCh38
NC_000005.9:g.70241949G>T , CM000667.1:g.70241949G>T	GRCh37
NC_000005.8:g.70277705G>T	NCBI36
NG_008691.1:g.26182G>T , LRG_676:g.26182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.780G>T MANE Select	ENSP00000370083.4:p.Leu260Phe
ENST00000351205.8:c.780G>T	ENSP00000305857.5:p.Leu260Phe
ENST00000380707.8:c.780G>T	ENSP00000370083.4:p.Leu260Phe
ENST00000503079.6:c.684G>T	ENSP00000428128.1:p.Leu228Phe
ENST00000506163.5:c.780G>T	ENSP00000424926.1:p.Leu260Phe
ENST00000506239.6:c.780G>T	ENSP00000422679.2:p.Leu260Phe
ENST00000510679.1:n.34G>T
ENST00000513228.1:n.347G>T
ENST00000514951.5:c.579G>T	ENSP00000423298.1:p.Leu193Phe
ENST00000518504.5:n.297G>T
ENST00000625245.2:c.780G>T	ENSP00000486539.1:p.Leu260Phe
NM_000344.3:c.780G>T , LRG_676t1:c.780G>T	NP_000335.1:p.Leu260Phe
NM_001297715.1:c.780G>T	NP_001284644.1:p.Leu260Phe
NM_022874.2:c.684G>T	NP_075012.1:p.Leu228Phe
XM_011543596.1:c.780G>T	XP_011541898.1:p.Leu260Phe
XM_011543597.1:c.579G>T	XP_011541899.1:p.Leu193Phe
XM_011543598.1:c.483G>T	XP_011541900.1:p.Leu161Phe
XM_011543598.3:c.483G>T	XP_011541900.1:p.Leu161Phe
XM_017009786.1:c.684G>T	XP_016865275.1:p.Leu228Phe
NM_000344.4:c.780G>T MANE Select	NP_000335.1:p.Leu260Phe