Canonical Allele Identifier: CA387298705

Gene: PUS1

Linked Data

• dbSNP Id: rs1593296100
• MyVariant Identifiers: chr12:g.132425860T>G (hg19) ; chr12:g.131941315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941315T>G , CM000674.2:g.131941315T>G	GRCh38
NC_000012.11:g.132425860T>G , CM000674.1:g.132425860T>G	GRCh37
NC_000012.10:g.130991813T>G	NCBI36
NG_013039.1:g.17116T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.568T>G MANE Select	ENSP00000365837.3:p.Phe190Val
ENST00000322060.9:c.484T>G	ENSP00000324726.5:p.Phe162Val
ENST00000376649.7:c.568T>G	ENSP00000365837.3:p.Phe190Val
ENST00000443358.6:c.484T>G	ENSP00000392451.2:p.Phe162Val
ENST00000535067.5:c.358-2224T>G	ENSP00000443969.1:n.358-2224T>G
ENST00000537484.1:c.493T>G	ENSP00000440179.1:p.Phe165Val
ENST00000542167.2:c.409T>G	ENSP00000438948.1:p.Phe137Val
ENST00000543754.1:n.389T>G
NM_001002019.2:c.484T>G	NP_001002019.1:p.Phe162Val
NM_001002020.2:c.484T>G	NP_001002020.1:p.Phe162Val
NM_025215.5:c.568T>G	NP_079491.2:p.Phe190Val
XM_011538768.1:c.169T>G	XP_011537070.1:p.Phe57Val
XM_011538768.3:c.169T>G	XP_011537070.1:p.Phe57Val
XR_001748872.1:n.1023T>G
NM_001002019.3:c.484T>G	NP_001002019.1:p.Phe162Val
NM_001002020.3:c.484T>G	NP_001002020.1:p.Phe162Val
NM_025215.6:c.568T>G MANE Select	NP_079491.2:p.Phe190Val