Canonical Allele Identifier: CA6884181

Gene: PUS1

Linked Data

• ClinVar Variation Id: 378450
• ClinVar RCV Id: RCV000883230 ; RCV001112337 ; RCV001833522
• dbSNP Id: rs201541270
• ExAC: 12:132425830 C / T
• gnomAD v2: 12-132425830-C-T
• gnomAD v3: 12-131941285-C-T
• gnomAD v4: 12-131941285-C-T
• MyVariant Identifiers: chr12:g.132425830C>T (hg19) ; chr12:g.131941285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941285C>T , CM000674.2:g.131941285C>T	GRCh38
NC_000012.11:g.132425830C>T , CM000674.1:g.132425830C>T	GRCh37
NC_000012.10:g.130991783C>T	NCBI36
NG_013039.1:g.17086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-7C>T MANE Select	ENSP00000365837.3:n.545-7C>T
ENST00000322060.9:c.461-7C>T	ENSP00000324726.5:n.461-7C>T
ENST00000376649.7:c.545-7C>T	ENSP00000365837.3:n.545-7C>T
ENST00000443358.6:c.461-7C>T	ENSP00000392451.2:n.461-7C>T
ENST00000535067.5:c.358-2254C>T	ENSP00000443969.1:n.358-2254C>T
ENST00000537484.1:c.470-7C>T	ENSP00000440179.1:n.470-7C>T
ENST00000542167.2:c.386-7C>T	ENSP00000438948.1:n.386-7C>T
ENST00000543754.1:n.359C>T
NM_001002019.2:c.461-7C>T	NP_001002019.1:n.461-7C>T
NM_001002020.2:c.461-7C>T	NP_001002020.1:n.461-7C>T
NM_025215.5:c.545-7C>T	NP_079491.2:n.545-7C>T
XM_011538768.1:c.146-7C>T	XP_011537070.1:n.146-7C>T
XM_011538768.3:c.146-7C>T	XP_011537070.1:n.146-7C>T
XR_001748872.1:n.1000-7C>T
NM_001002019.3:c.461-7C>T	NP_001002019.1:n.461-7C>T
NM_001002020.3:c.461-7C>T	NP_001002020.1:n.461-7C>T
NM_025215.6:c.545-7C>T MANE Select	NP_079491.2:n.545-7C>T