Canonical Allele Identifier: CA360096631

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241909C>T (hg19) ; chr5:g.70946082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946082C>T , CM000667.2:g.70946082C>T	GRCh38
NC_000005.9:g.70241909C>T , CM000667.1:g.70241909C>T	GRCh37
NC_000005.8:g.70277665C>T	NCBI36
NG_008691.1:g.26142C>T , LRG_676:g.26142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.740C>T MANE Select	ENSP00000370083.4:p.Pro247Leu
ENST00000351205.8:c.740C>T	ENSP00000305857.5:p.Pro247Leu
ENST00000380707.8:c.740C>T	ENSP00000370083.4:p.Pro247Leu
ENST00000503079.6:c.644C>T	ENSP00000428128.1:p.Pro215Leu
ENST00000506163.5:c.740C>T	ENSP00000424926.1:p.Pro247Leu
ENST00000506239.6:c.740C>T	ENSP00000422679.2:p.Pro247Leu
ENST00000513228.1:n.307C>T
ENST00000514951.5:c.539C>T	ENSP00000423298.1:p.Pro180Leu
ENST00000518504.5:n.257C>T
ENST00000625245.2:c.740C>T	ENSP00000486539.1:p.Pro247Leu
NM_000344.3:c.740C>T , LRG_676t1:c.740C>T	NP_000335.1:p.Pro247Leu
NM_001297715.1:c.740C>T	NP_001284644.1:p.Pro247Leu
NM_022874.2:c.644C>T	NP_075012.1:p.Pro215Leu
XM_011543596.1:c.740C>T	XP_011541898.1:p.Pro247Leu
XM_011543597.1:c.539C>T	XP_011541899.1:p.Pro180Leu
XM_011543598.1:c.443C>T	XP_011541900.1:p.Pro148Leu
XM_011543598.3:c.443C>T	XP_011541900.1:p.Pro148Leu
XM_017009786.1:c.644C>T	XP_016865275.1:p.Pro215Leu
NM_000344.4:c.740C>T MANE Select	NP_000335.1:p.Pro247Leu