Canonical Allele Identifier: CA2072621202

Gene: PUS1

Linked Data

• dbSNP Id: rs1891064088

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941490dup , CM000674.2:g.131941490dup	GRCh38
NC_000012.11:g.132426035dup , CM000674.1:g.132426035dup	GRCh37
NC_000012.10:g.130991988dup	NCBI36
NG_013039.1:g.17291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.743dup MANE Select	ENSP00000365837.3:p.Thr249HisfsTer?
ENST00000322060.9:c.659dup	ENSP00000324726.5:p.Thr221HisfsTer?
ENST00000376649.7:c.743dup	ENSP00000365837.3:p.Thr249HisfsTer?
ENST00000443358.6:c.659dup	ENSP00000392451.2:p.Thr221HisfsTer?
ENST00000535067.5:c.358-2049dup	ENSP00000443969.1:n.358-2049dup
ENST00000542167.2:c.584dup	ENSP00000438948.1:p.Thr196HisfsTer?
ENST00000543754.1:n.564dup
NM_001002019.2:c.659dup	NP_001002019.1:p.Thr221HisfsTer?
NM_001002020.2:c.659dup	NP_001002020.1:p.Thr221HisfsTer?
NM_025215.5:c.743dup	NP_079491.2:p.Thr249HisfsTer?
XM_011538768.1:c.344dup	XP_011537070.1:p.Thr116HisfsTer?
XM_011538768.3:c.344dup	XP_011537070.1:p.Thr116HisfsTer?
XR_001748872.1:n.1198dup
NM_001002019.3:c.659dup	NP_001002019.1:p.Thr221HisfsTer?
NM_001002020.3:c.659dup	NP_001002020.1:p.Thr221HisfsTer?
NM_025215.6:c.743dup MANE Select	NP_079491.2:p.Thr249HisfsTer?