Canonical Allele Identifier: CA360098122

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70247771T>C (hg19) ; chr5:g.70951944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951944T>C , CM000667.2:g.70951944T>C	GRCh38
NC_000005.9:g.70247771T>C , CM000667.1:g.70247771T>C	GRCh37
NC_000005.8:g.70283527T>C	NCBI36
NG_008691.1:g.32004T>C , LRG_676:g.32004T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.838T>C MANE Select	ENSP00000370083.4:p.Phe280Leu
ENST00000351205.8:c.838T>C	ENSP00000305857.5:p.Phe280Leu
ENST00000380707.8:c.838T>C	ENSP00000370083.4:p.Phe280Leu
ENST00000503079.6:c.742T>C	ENSP00000428128.1:p.Phe248Leu
ENST00000506163.5:c.835-495T>C	ENSP00000424926.1:n.835-495T>C
ENST00000506239.6:c.*59-495T>C	ENSP00000422679.2:n.*59-495T>C
ENST00000510679.1:n.92T>C
ENST00000514951.5:c.637T>C	ENSP00000423298.1:p.Phe213Leu
NM_000344.3:c.838T>C , LRG_676t1:c.838T>C	NP_000335.1:p.Phe280Leu
NM_001297715.1:c.835-495T>C	NP_001284644.1:n.835-495T>C
NM_022874.2:c.742T>C	NP_075012.1:p.Phe248Leu
XM_011543597.1:c.637T>C	XP_011541899.1:p.Phe213Leu
XM_011543598.1:c.541T>C	XP_011541900.1:p.Phe181Leu
XM_011543598.3:c.541T>C	XP_011541900.1:p.Phe181Leu
XM_017009786.1:c.739-495T>C	XP_016865275.1:n.739-495T>C
NM_000344.4:c.838T>C MANE Select	NP_000335.1:p.Phe280Leu