Canonical Allele Identifier: CA246187369

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941631G>A , CM000674.2:g.131941631G>A	GRCh38
NC_000012.11:g.132426176G>A , CM000674.1:g.132426176G>A	GRCh37
NC_000012.10:g.130992129G>A	NCBI36
NG_013039.1:g.17432G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.884G>A MANE Select	NP_079491.2:p.Arg295Gln
ENST00000376649.8:c.884G>A MANE Select	ENSP00000365837.3:p.Arg295Gln
NM_001002019.2:c.800G>A	NP_001002019.1:p.Arg267Gln
NM_001002019.3:c.800G>A	NP_001002019.1:p.Arg267Gln
NM_001002020.2:c.800G>A	NP_001002020.1:p.Arg267Gln
NM_001002020.3:c.800G>A	NP_001002020.1:p.Arg267Gln
NM_025215.5:c.884G>A	NP_079491.2:p.Arg295Gln
ENST00000322060.9:c.800G>A	ENSP00000324726.5:p.Arg267Gln
ENST00000376649.7:c.884G>A	ENSP00000365837.3:p.Arg295Gln
ENST00000443358.6:c.800G>A	ENSP00000392451.2:p.Arg267Gln
ENST00000535067.5:c.358-1908G>A	ENSP00000443969.1:n.358-1908G>A
ENST00000542167.2:c.725G>A	ENSP00000438948.1:p.Arg242Gln
ENST00000543754.1:n.705G>A
XM_011538768.1:c.485G>A	XP_011537070.1:p.Arg162Gln
XM_011538768.3:c.485G>A	XP_011537070.1:p.Arg162Gln
XR_001748872.1:n.1339G>A