Canonical Allele Identifier: CA408822133

Gene: SAMHD1

Linked Data

• ClinVar Variation Id: 592135
• ClinVar RCV Id: RCV000723336 ; RCV003489844
• dbSNP Id: rs1303667371
• MyVariant Identifiers: chr20:g.35559217T>C (hg19) ; chr20:g.36930814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36930814T>C , CM000682.2:g.36930814T>C	GRCh38
NC_000020.10:g.35559217T>C , CM000682.1:g.35559217T>C	GRCh37
NC_000020.9:g.34992631T>C	NCBI36
NG_017059.1:g.26030A>G , LRG_281:g.26030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.571A>G	ENSP00000494354.2:p.Ile191Val
ENST00000644250.2:c.571A>G	ENSP00000493810.2:p.Ile191Val
ENST00000644688.2:n.633A>G
ENST00000645444.2:c.571A>G	ENSP00000495381.2:p.Ile191Val
ENST00000682773.1:c.571A>G	ENSP00000507178.1:p.Ile191Val
ENST00000683720.1:c.571A>G	ENSP00000508219.1:p.Ile191Val
ENST00000683766.1:c.571A>G	ENSP00000506877.1:p.Ile191Val
ENST00000262878.5:c.571A>G	ENSP00000262878.5:p.Ile191Val
ENST00000642186.1:c.571A>G	ENSP00000494436.1:p.Ile191Val
ENST00000642246.1:c.*250A>G	ENSP00000494979.1:n.*250A>G
ENST00000642616.1:c.*48A>G	ENSP00000494271.1:n.*48A>G
ENST00000643078.1:c.*250A>G	ENSP00000496474.1:n.*250A>G
ENST00000643161.1:n.134A>G
ENST00000643918.1:c.571A>G	ENSP00000493928.1:p.Ile191Val
ENST00000644114.1:c.497A>G
ENST00000644370.1:n.512A>G
ENST00000645033.1:c.571A>G	ENSP00000494520.1:p.Ile191Val
ENST00000645444.1:c.339A>G
ENST00000646066.1:c.571A>G	ENSP00000495432.1:p.Ile191Val
ENST00000646121.1:c.288A>G
ENST00000646673.2:c.571A>G MANE Select	ENSP00000493536.2:p.Ile191Val
ENST00000646866.1:c.*20A>G	ENSP00000495737.1:n.*20A>G
ENST00000646869.1:c.571A>G	ENSP00000495667.1:p.Ile191Val
ENST00000646904.1:c.571A>G	ENSP00000494823.1:p.Ile191Val
ENST00000647095.1:n.642A>G
ENST00000647163.1:c.571A>G	ENSP00000494313.1:p.Ile191Val
ENST00000647459.1:n.598A>G
ENST00000262878.4:c.571A>G	ENSP00000262878.4:p.Ile191Val
NM_015474.3:c.571A>G , LRG_281t1:c.571A>G	NP_056289.2:p.Ile191Val
XM_005260384.2:c.571A>G	XP_005260441.1:p.Ile191Val
XM_011528761.1:c.571A>G	XP_011527063.1:p.Ile191Val
NM_001363729.1:c.571A>G	NP_001350658.1:p.Ile191Val
NM_001363733.1:c.571A>G	NP_001350662.1:p.Ile191Val
NM_001363729.2:c.571A>G	NP_001350658.1:p.Ile191Val
NM_001363733.2:c.571A>G	NP_001350662.1:p.Ile191Val
NM_015474.4:c.571A>G MANE Select	NP_056289.2:p.Ile191Val