Canonical Allele Identifier: CA608511220

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1979785
• ClinVar RCV Id: RCV002756131
• dbSNP Id: rs377129914
• gnomAD v2: 12-132425831-C-A
• gnomAD v4: 12-131941286-C-A
• MyVariant Identifiers: chr12:g.132425831C>A (hg19) ; chr12:g.131941286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941286C>A , CM000674.2:g.131941286C>A	GRCh38
NC_000012.11:g.132425831C>A , CM000674.1:g.132425831C>A	GRCh37
NC_000012.10:g.130991784C>A	NCBI36
NG_013039.1:g.17087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-6C>A MANE Select	ENSP00000365837.3:n.545-6C>A
ENST00000322060.9:c.461-6C>A	ENSP00000324726.5:n.461-6C>A
ENST00000376649.7:c.545-6C>A	ENSP00000365837.3:n.545-6C>A
ENST00000443358.6:c.461-6C>A	ENSP00000392451.2:n.461-6C>A
ENST00000535067.5:c.358-2253C>A	ENSP00000443969.1:n.358-2253C>A
ENST00000537484.1:c.470-6C>A	ENSP00000440179.1:n.470-6C>A
ENST00000542167.2:c.386-6C>A	ENSP00000438948.1:n.386-6C>A
ENST00000543754.1:n.360C>A
NM_001002019.2:c.461-6C>A	NP_001002019.1:n.461-6C>A
NM_001002020.2:c.461-6C>A	NP_001002020.1:n.461-6C>A
NM_025215.5:c.545-6C>A	NP_079491.2:n.545-6C>A
XM_011538768.1:c.146-6C>A	XP_011537070.1:n.146-6C>A
XM_011538768.3:c.146-6C>A	XP_011537070.1:n.146-6C>A
XR_001748872.1:n.1000-6C>A
NM_001002019.3:c.461-6C>A	NP_001002019.1:n.461-6C>A
NM_001002020.3:c.461-6C>A	NP_001002020.1:n.461-6C>A
NM_025215.6:c.545-6C>A MANE Select	NP_079491.2:n.545-6C>A