Canonical Allele Identifier: CA337797739

Gene: SAMD11

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.935847C>G , CM000663.2:g.935847C>G	GRCh38
NC_000001.10:g.871227C>G , CM000663.1:g.871227C>G	GRCh37
NC_000001.9:g.861090C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001385641.1:c.918C>G MANE Select	NP_001372570.1:p.Ser306Arg
ENST00000616016.5:c.918C>G MANE Select	ENSP00000478421.2:p.Ser306Arg
NM_001385640.1:c.918C>G	NP_001372569.1:p.Ser306Arg
NM_152486.2:c.381C>G	NP_689699.2:p.Ser127Arg
NM_152486.3:c.381C>G	NP_689699.2:p.Ser127Arg
NM_152486.4:c.381C>G	NP_689699.3:p.Ser127Arg
ENST00000341065.8:c.152C>G
ENST00000342066.7:c.381C>G	ENSP00000342313.3:p.Ser127Arg
ENST00000342066.8:c.381C>G	ENSP00000342313.3:p.Ser127Arg
ENST00000420190.5:c.381C>G	ENSP00000411579.1:p.Ser127Arg
ENST00000616016.4:c.381C>G	ENSP00000478421.1:p.Ser127Arg
ENST00000616125.4:c.381C>G	ENSP00000484643.1:p.Ser127Arg
ENST00000616125.5:c.381C>G	ENSP00000484643.1:p.Ser127Arg
ENST00000617307.4:c.381C>G	ENSP00000482090.1:p.Ser127Arg
ENST00000617307.5:c.381C>G	ENSP00000482090.2:p.Ser127Arg
ENST00000618181.4:c.330C>G	ENSP00000480870.1:p.Ser110Arg
ENST00000618181.5:c.330C>G	ENSP00000480870.1:p.Ser110Arg
ENST00000618323.4:c.339+42C>G	ENSP00000480678.1:n.339+42C>G
ENST00000618323.5:c.918C>G	ENSP00000480678.2:p.Ser306Arg
ENST00000618779.4:c.381C>G	ENSP00000484256.1:p.Ser127Arg
ENST00000618779.5:c.381C>G	ENSP00000484256.1:p.Ser127Arg
ENST00000620200.4:c.305+4758C>G	ENSP00000484820.1:n.305+4758C>G
ENST00000622503.4:c.381C>G	ENSP00000482138.1:p.Ser127Arg
ENST00000622503.5:c.381C>G	ENSP00000482138.1:p.Ser127Arg