Canonical Allele Identifier: CA6884179

Gene: PUS1

Linked Data

• ClinVar Variation Id: 763946
• ClinVar RCV Id: RCV000942241
• dbSNP Id: rs757310329
• ExAC: 12:132425828 C / A
• gnomAD v2: 12-132425828-C-A
• gnomAD v3: 12-131941283-C-A
• gnomAD v4: 12-131941283-C-A
• MyVariant Identifiers: chr12:g.132425828C>A (hg19) ; chr12:g.131941283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941283C>A , CM000674.2:g.131941283C>A	GRCh38
NC_000012.11:g.132425828C>A , CM000674.1:g.132425828C>A	GRCh37
NC_000012.10:g.130991781C>A	NCBI36
NG_013039.1:g.17084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-9C>A MANE Select	ENSP00000365837.3:n.545-9C>A
ENST00000322060.9:c.461-9C>A	ENSP00000324726.5:n.461-9C>A
ENST00000376649.7:c.545-9C>A	ENSP00000365837.3:n.545-9C>A
ENST00000443358.6:c.461-9C>A	ENSP00000392451.2:n.461-9C>A
ENST00000535067.5:c.358-2256C>A	ENSP00000443969.1:n.358-2256C>A
ENST00000537484.1:c.470-9C>A	ENSP00000440179.1:n.470-9C>A
ENST00000542167.2:c.386-9C>A	ENSP00000438948.1:n.386-9C>A
ENST00000543754.1:n.357C>A
NM_001002019.2:c.461-9C>A	NP_001002019.1:n.461-9C>A
NM_001002020.2:c.461-9C>A	NP_001002020.1:n.461-9C>A
NM_025215.5:c.545-9C>A	NP_079491.2:n.545-9C>A
XM_011538768.1:c.146-9C>A	XP_011537070.1:n.146-9C>A
XM_011538768.3:c.146-9C>A	XP_011537070.1:n.146-9C>A
XR_001748872.1:n.1000-9C>A
NM_001002019.3:c.461-9C>A	NP_001002019.1:n.461-9C>A
NM_001002020.3:c.461-9C>A	NP_001002020.1:n.461-9C>A
NM_025215.6:c.545-9C>A MANE Select	NP_079491.2:n.545-9C>A