Canonical Allele Identifier: CA482841628

Gene: PUS1

Linked Data

• dbSNP Id: rs1459327069
• MyVariant Identifiers: chr12:g.132425862T>C (hg19) ; chr12:g.131941317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941317T>C , CM000674.2:g.131941317T>C	GRCh38
NC_000012.11:g.132425862T>C , CM000674.1:g.132425862T>C	GRCh37
NC_000012.10:g.130991815T>C	NCBI36
NG_013039.1:g.17118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.570T>C MANE Select	ENSP00000365837.3:p.Phe190=
ENST00000322060.9:c.486T>C	ENSP00000324726.5:p.Phe162=
ENST00000376649.7:c.570T>C	ENSP00000365837.3:p.Phe190=
ENST00000443358.6:c.486T>C	ENSP00000392451.2:p.Phe162=
ENST00000535067.5:c.358-2222T>C	ENSP00000443969.1:n.358-2222T>C
ENST00000537484.1:c.495T>C	ENSP00000440179.1:p.Phe165=
ENST00000542167.2:c.411T>C	ENSP00000438948.1:p.Phe137=
ENST00000543754.1:n.391T>C
NM_001002019.2:c.486T>C	NP_001002019.1:p.Phe162=
NM_001002020.2:c.486T>C	NP_001002020.1:p.Phe162=
NM_025215.5:c.570T>C	NP_079491.2:p.Phe190=
XM_011538768.1:c.171T>C	XP_011537070.1:p.Phe57=
XM_011538768.3:c.171T>C	XP_011537070.1:p.Phe57=
XR_001748872.1:n.1025T>C
NM_001002019.3:c.486T>C	NP_001002019.1:p.Phe162=
NM_001002020.3:c.486T>C	NP_001002020.1:p.Phe162=
NM_025215.6:c.570T>C MANE Select	NP_079491.2:p.Phe190=