Canonical Allele Identifier: CA2072627145

Gene: PUS1

Linked Data

• dbSNP Id: rs1891051487

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941289T>C , CM000674.2:g.131941289T>C	GRCh38
NC_000012.11:g.132425834T>C , CM000674.1:g.132425834T>C	GRCh37
NC_000012.10:g.130991787T>C	NCBI36
NG_013039.1:g.17090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-3T>C MANE Select	ENSP00000365837.3:n.545-3T>C
ENST00000322060.9:c.461-3T>C	ENSP00000324726.5:n.461-3T>C
ENST00000376649.7:c.545-3T>C	ENSP00000365837.3:n.545-3T>C
ENST00000443358.6:c.461-3T>C	ENSP00000392451.2:n.461-3T>C
ENST00000535067.5:c.358-2250T>C	ENSP00000443969.1:n.358-2250T>C
ENST00000537484.1:c.470-3T>C	ENSP00000440179.1:n.470-3T>C
ENST00000542167.2:c.386-3T>C	ENSP00000438948.1:n.386-3T>C
ENST00000543754.1:n.363T>C
NM_001002019.2:c.461-3T>C	NP_001002019.1:n.461-3T>C
NM_001002020.2:c.461-3T>C	NP_001002020.1:n.461-3T>C
NM_025215.5:c.545-3T>C	NP_079491.2:n.545-3T>C
XM_011538768.1:c.146-3T>C	XP_011537070.1:n.146-3T>C
XM_011538768.3:c.146-3T>C	XP_011537070.1:n.146-3T>C
XR_001748872.1:n.1000-3T>C
NM_001002019.3:c.461-3T>C	NP_001002019.1:n.461-3T>C
NM_001002020.3:c.461-3T>C	NP_001002020.1:n.461-3T>C
NM_025215.6:c.545-3T>C MANE Select	NP_079491.2:n.545-3T>C