Canonical Allele Identifier: CA360096583

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241905C>A (hg19) ; chr5:g.70946078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946078C>A , CM000667.2:g.70946078C>A	GRCh38
NC_000005.9:g.70241905C>A , CM000667.1:g.70241905C>A	GRCh37
NC_000005.8:g.70277661C>A	NCBI36
NG_008691.1:g.26138C>A , LRG_676:g.26138C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.736C>A MANE Select	ENSP00000370083.4:p.Pro246Thr
ENST00000351205.8:c.736C>A	ENSP00000305857.5:p.Pro246Thr
ENST00000380707.8:c.736C>A	ENSP00000370083.4:p.Pro246Thr
ENST00000503079.6:c.640C>A	ENSP00000428128.1:p.Pro214Thr
ENST00000506163.5:c.736C>A	ENSP00000424926.1:p.Pro246Thr
ENST00000506239.6:c.736C>A	ENSP00000422679.2:p.Pro246Thr
ENST00000507905.6:c.430C>A	ENSP00000430657.1:n.430C>A
ENST00000513228.1:n.303C>A
ENST00000514951.5:c.535C>A	ENSP00000423298.1:p.Pro179Thr
ENST00000518504.5:n.253C>A
ENST00000625245.2:c.736C>A	ENSP00000486539.1:p.Pro246Thr
NM_000344.3:c.736C>A , LRG_676t1:c.736C>A	NP_000335.1:p.Pro246Thr
NM_001297715.1:c.736C>A	NP_001284644.1:p.Pro246Thr
NM_022874.2:c.640C>A	NP_075012.1:p.Pro214Thr
XM_011543596.1:c.736C>A	XP_011541898.1:p.Pro246Thr
XM_011543597.1:c.535C>A	XP_011541899.1:p.Pro179Thr
XM_011543598.1:c.439C>A	XP_011541900.1:p.Pro147Thr
XM_011543598.3:c.439C>A	XP_011541900.1:p.Pro147Thr
XM_017009786.1:c.640C>A	XP_016865275.1:p.Pro214Thr
NM_000344.4:c.736C>A MANE Select	NP_000335.1:p.Pro246Thr