Canonical Allele Identifier: CA444972238

Gene: SMN1

Linked Data

• COSMIC: COSM3683877
• MyVariant Identifiers: chr5:g.70241907A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946080A>C , CM000667.2:g.70946080A>C	GRCh38
NC_000005.9:g.70241907A>C , CM000667.1:g.70241907A>C	GRCh37
NC_000005.8:g.70277663A>C	NCBI36
NG_008691.1:g.26140A>C , LRG_676:g.26140A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.738A>C MANE Select	ENSP00000370083.4:p.Pro246=
ENST00000351205.8:c.738A>C	ENSP00000305857.5:p.Pro246=
ENST00000380707.8:c.738A>C	ENSP00000370083.4:p.Pro246=
ENST00000503079.6:c.642A>C	ENSP00000428128.1:p.Pro214=
ENST00000506163.5:c.738A>C	ENSP00000424926.1:p.Pro246=
ENST00000506239.6:c.738A>C	ENSP00000422679.2:p.Pro246=
ENST00000513228.1:n.305A>C
ENST00000514951.5:c.537A>C	ENSP00000423298.1:p.Pro179=
ENST00000518504.5:n.255A>C
ENST00000625245.2:c.738A>C	ENSP00000486539.1:p.Pro246=
NM_000344.3:c.738A>C , LRG_676t1:c.738A>C	NP_000335.1:p.Pro246=
NM_001297715.1:c.738A>C	NP_001284644.1:p.Pro246=
NM_022874.2:c.642A>C	NP_075012.1:p.Pro214=
XM_011543596.1:c.738A>C	XP_011541898.1:p.Pro246=
XM_011543597.1:c.537A>C	XP_011541899.1:p.Pro179=
XM_011543598.1:c.441A>C	XP_011541900.1:p.Pro147=
XM_011543598.3:c.441A>C	XP_011541900.1:p.Pro147=
XM_017009786.1:c.642A>C	XP_016865275.1:p.Pro214=
NM_000344.4:c.738A>C MANE Select	NP_000335.1:p.Pro246=