Canonical Allele Identifier: CA368185911

Gene: SAMD9L

Linked Data

• ClinVar Variation Id: 446530
• ClinVar RCV Id: RCV000515805 ; RCV001270308 ; RCV001557094
• dbSNP Id: rs1554341158
• COSMIC: COSM1224632
• MyVariant Identifiers: chr7:g.92762329G>A (hg19) ; chr7:g.93133016G>A (hg38)
• PubMed: PMID:28202457 ; PMID:28570036

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93133016G>A , CM000669.2:g.93133016G>A	GRCh38
NC_000007.13:g.92762329G>A , CM000669.1:g.92762329G>A	GRCh37
NC_000007.12:g.92600265G>A	NCBI36
NG_053186.1:g.20386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414791.6:c.2956C>T	ENSP00000396137.2:p.Arg986Cys
ENST00000439952.6:c.2956C>T	ENSP00000391387.2:p.Arg986Cys
ENST00000446033.2:c.2956C>T	ENSP00000410062.2:p.Arg986Cys
ENST00000446959.6:c.2956C>T	ENSP00000391699.2:p.Arg986Cys
ENST00000699641.1:c.2956C>T	ENSP00000514494.1:p.Arg986Cys
ENST00000318238.9:c.2956C>T MANE Select	ENSP00000326247.4:p.Arg986Cys
ENST00000318238.8:c.2956C>T	ENSP00000326247.4:p.Arg986Cys
ENST00000411955.5:c.2956C>T	ENSP00000405760.1:p.Arg986Cys
ENST00000437805.5:c.2956C>T	ENSP00000408796.1:p.Arg986Cys
ENST00000610760.1:c.453-1031C>T	ENSP00000484397.1:n.453-1031C>T
NM_001303496.1:c.2956C>T	NP_001290425.1:p.Arg986Cys
NM_001303497.1:c.2956C>T	NP_001290426.1:p.Arg986Cys
NM_001303498.1:c.2956C>T	NP_001290427.1:p.Arg986Cys
NM_001303500.1:c.2956C>T	NP_001290429.1:p.Arg986Cys
NM_152703.3:c.2956C>T	NP_689916.2:p.Arg986Cys
XM_005250193.2:c.2956C>T	XP_005250250.1:p.Arg986Cys
XM_006715890.1:c.2956C>T	XP_006715953.1:p.Arg986Cys
XM_011515903.1:c.2956C>T	XP_011514205.1:p.Arg986Cys
NM_001303496.2:c.2956C>T	NP_001290425.1:p.Arg986Cys
NM_001303497.2:c.2956C>T	NP_001290426.1:p.Arg986Cys
NM_001303498.2:c.2956C>T	NP_001290427.1:p.Arg986Cys
NM_001303500.2:c.2956C>T	NP_001290429.1:p.Arg986Cys
NM_001350082.1:c.2956C>T	NP_001337011.1:p.Arg986Cys
NM_001350083.1:c.2956C>T	NP_001337012.1:p.Arg986Cys
NM_001350084.1:c.2956C>T	NP_001337013.1:p.Arg986Cys
NM_001350085.1:c.2956C>T	NP_001337014.1:p.Arg986Cys
NM_152703.4:c.2956C>T	NP_689916.2:p.Arg986Cys
NM_152703.5:c.2956C>T MANE Select	NP_689916.2:p.Arg986Cys
NM_001303496.3:c.2956C>T	NP_001290425.1:p.Arg986Cys
NM_001303497.3:c.2956C>T	NP_001290426.1:p.Arg986Cys
NM_001303498.3:c.2956C>T	NP_001290427.1:p.Arg986Cys
NM_001303500.3:c.2956C>T	NP_001290429.1:p.Arg986Cys
NM_001350082.2:c.2956C>T	NP_001337011.1:p.Arg986Cys
NM_001350083.2:c.2956C>T	NP_001337012.1:p.Arg986Cys
NM_001350084.2:c.2956C>T	NP_001337013.1:p.Arg986Cys
NM_001350085.2:c.2956C>T	NP_001337014.1:p.Arg986Cys