Canonical Allele Identifier: CA9980619

Gene: SAMSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.14510387C>T , CM000683.2:g.14510387C>T	GRCh38
NC_000021.8:g.15882708C>T , CM000683.1:g.15882708C>T	GRCh37
NC_000021.7:g.14804579C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285670.7:c.688G>A	ENSP00000285670.2:p.Gly230Arg
ENST00000400566.6:c.484G>A MANE Select	ENSP00000383411.2:p.Gly162Arg
ENST00000644288.1:n.863G>A
ENST00000647101.1:c.1372G>A	ENSP00000493867.1:p.Gly458Arg
ENST00000285670.6:c.688G>A	ENSP00000285670.2:p.Gly230Arg
ENST00000400564.5:c.58-9652G>A	ENSP00000383409.1:n.58-9652G>A
ENST00000400566.5:c.484G>A	ENSP00000383411.1:p.Gly162Arg
ENST00000619120.4:c.277G>A	ENSP00000480850.1:p.Gly93Arg
NM_001256370.1:c.688G>A	NP_001243299.1:p.Gly230Arg
NM_001286523.1:c.277G>A	NP_001273452.1:p.Gly93Arg
NM_022136.4:c.484G>A	NP_071419.3:p.Gly162Arg
XM_011529684.1:c.430G>A	XP_011527986.1:p.Gly144Arg
XM_011529685.1:c.334G>A	XP_011527987.1:p.Gly112Arg
XM_011529686.1:c.484G>A	XP_011527988.1:p.Gly162Arg
XM_011529687.1:c.280G>A	XP_011527989.1:p.Gly94Arg
XR_937544.1:n.580G>A
XR_937587.1:n.340-27459C>T
XM_011529684.2:c.430G>A	XP_011527986.1:p.Gly144Arg
XM_017028427.1:c.484G>A	XP_016883916.1:p.Gly162Arg
NM_022136.5:c.484G>A MANE Select	NP_071419.3:p.Gly162Arg
NM_001256370.2:c.688G>A	NP_001243299.1:p.Gly230Arg
NM_001286523.2:c.277G>A	NP_001273452.1:p.Gly93Arg
NM_001395857.1:c.1372G>A	NP_001382786.1:p.Gly458Arg
NM_001395858.1:c.1468G>A	NP_001382787.1:p.Gly490Arg