Canonical Allele Identifier: CA337797840

Gene: SAMD11

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.935882G>A , CM000663.2:g.935882G>A	GRCh38
NC_000001.10:g.871262G>A , CM000663.1:g.871262G>A	GRCh37
NC_000001.9:g.861125G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001385641.1:c.953G>A MANE Select	NP_001372570.1:p.Gly318Asp
ENST00000616016.5:c.953G>A MANE Select	ENSP00000478421.2:p.Gly318Asp
NM_001385640.1:c.953G>A	NP_001372569.1:p.Gly318Asp
NM_152486.2:c.416G>A	NP_689699.2:p.Gly139Asp
NM_152486.3:c.416G>A	NP_689699.2:p.Gly139Asp
NM_152486.4:c.416G>A	NP_689699.3:p.Gly139Asp
ENST00000341065.8:c.187G>A
ENST00000342066.7:c.416G>A	ENSP00000342313.3:p.Gly139Asp
ENST00000342066.8:c.416G>A	ENSP00000342313.3:p.Gly139Asp
ENST00000420190.5:c.416G>A	ENSP00000411579.1:p.Gly139Asp
ENST00000616016.4:c.416G>A	ENSP00000478421.1:p.Gly139Asp
ENST00000616125.4:c.416G>A	ENSP00000484643.1:p.Gly139Asp
ENST00000616125.5:c.416G>A	ENSP00000484643.1:p.Gly139Asp
ENST00000617307.4:c.416G>A	ENSP00000482090.1:p.Gly139Asp
ENST00000617307.5:c.416G>A	ENSP00000482090.2:p.Gly139Asp
ENST00000618181.4:c.365G>A	ENSP00000480870.1:p.Gly122Asp
ENST00000618181.5:c.365G>A	ENSP00000480870.1:p.Gly122Asp
ENST00000618323.4:c.339+77G>A	ENSP00000480678.1:n.339+77G>A
ENST00000618323.5:c.953G>A	ENSP00000480678.2:p.Gly318Asp
ENST00000618779.4:c.416G>A	ENSP00000484256.1:p.Gly139Asp
ENST00000618779.5:c.416G>A	ENSP00000484256.1:p.Gly139Asp
ENST00000620200.4:c.305+4793G>A	ENSP00000484820.1:n.305+4793G>A
ENST00000622503.4:c.416G>A	ENSP00000482138.1:p.Gly139Asp
ENST00000622503.5:c.416G>A	ENSP00000482138.1:p.Gly139Asp