Canonical Allele Identifier: CA6884207

Gene: PUS1

Linked Data

• ClinVar Variation Id: 307701
• ClinVar RCV Id: RCV000281975 ; RCV001277397 ; RCV001354830 ; RCV002520798
• dbSNP Id: rs776342428
• ExAC: 12:132425935 C / T
• gnomAD v2: 12-132425935-C-T
• gnomAD v3: 12-131941390-C-T
• gnomAD v4: 12-131941390-C-T
• MyVariant Identifiers: chr12:g.132425935C>T (hg19) ; chr12:g.131941390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941390C>T , CM000674.2:g.131941390C>T	GRCh38
NC_000012.11:g.132425935C>T , CM000674.1:g.132425935C>T	GRCh37
NC_000012.10:g.130991888C>T	NCBI36
NG_013039.1:g.17191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.643C>T MANE Select	ENSP00000365837.3:p.Arg215Trp
ENST00000322060.9:c.559C>T	ENSP00000324726.5:p.Arg187Trp
ENST00000376649.7:c.643C>T	ENSP00000365837.3:p.Arg215Trp
ENST00000443358.6:c.559C>T	ENSP00000392451.2:p.Arg187Trp
ENST00000535067.5:c.358-2149C>T	ENSP00000443969.1:n.358-2149C>T
ENST00000537484.1:c.568C>T	ENSP00000440179.1:p.Arg190Trp
ENST00000542167.2:c.484C>T	ENSP00000438948.1:p.Arg162Trp
ENST00000543754.1:n.464C>T
NM_001002019.2:c.559C>T	NP_001002019.1:p.Arg187Trp
NM_001002020.2:c.559C>T	NP_001002020.1:p.Arg187Trp
NM_025215.5:c.643C>T	NP_079491.2:p.Arg215Trp
XM_011538768.1:c.244C>T	XP_011537070.1:p.Arg82Trp
XM_011538768.3:c.244C>T	XP_011537070.1:p.Arg82Trp
XR_001748872.1:n.1098C>T
NM_001002019.3:c.559C>T	NP_001002019.1:p.Arg187Trp
NM_001002020.3:c.559C>T	NP_001002020.1:p.Arg187Trp
NM_025215.6:c.643C>T MANE Select	NP_079491.2:p.Arg215Trp