Canonical Allele Identifier: CA387299189

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426085G>C (hg19) ; chr12:g.131941540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941540G>C , CM000674.2:g.131941540G>C	GRCh38
NC_000012.11:g.132426085G>C , CM000674.1:g.132426085G>C	GRCh37
NC_000012.10:g.130992038G>C	NCBI36
NG_013039.1:g.17341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.793G>C MANE Select	ENSP00000365837.3:p.Glu265Gln
ENST00000322060.9:c.709G>C	ENSP00000324726.5:p.Glu237Gln
ENST00000376649.7:c.793G>C	ENSP00000365837.3:p.Glu265Gln
ENST00000443358.6:c.709G>C	ENSP00000392451.2:p.Glu237Gln
ENST00000535067.5:c.358-1999G>C	ENSP00000443969.1:n.358-1999G>C
ENST00000542167.2:c.634G>C	ENSP00000438948.1:p.Glu212Gln
ENST00000543754.1:n.614G>C
NM_001002019.2:c.709G>C	NP_001002019.1:p.Glu237Gln
NM_001002020.2:c.709G>C	NP_001002020.1:p.Glu237Gln
NM_025215.5:c.793G>C	NP_079491.2:p.Glu265Gln
XM_011538768.1:c.394G>C	XP_011537070.1:p.Glu132Gln
XM_011538768.3:c.394G>C	XP_011537070.1:p.Glu132Gln
XR_001748872.1:n.1248G>C
NM_001002019.3:c.709G>C	NP_001002019.1:p.Glu237Gln
NM_001002020.3:c.709G>C	NP_001002020.1:p.Glu237Gln
NM_025215.6:c.793G>C MANE Select	NP_079491.2:p.Glu265Gln