Canonical Allele Identifier: CA6884101

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131932236G>A , CM000674.2:g.131932236G>A	GRCh38
NC_000012.11:g.132416781G>A , CM000674.1:g.132416781G>A	GRCh37
NC_000012.10:g.130982734G>A	NCBI36
NG_013039.1:g.8037G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.365G>A MANE Select	NP_079491.2:p.Arg122Gln
ENST00000376649.8:c.365G>A MANE Select	ENSP00000365837.3:p.Arg122Gln
NM_001002019.2:c.281G>A	NP_001002019.1:p.Arg94Gln
NM_001002019.3:c.281G>A	NP_001002019.1:p.Arg94Gln
NM_001002020.2:c.281G>A	NP_001002020.1:p.Arg94Gln
NM_001002020.3:c.281G>A	NP_001002020.1:p.Arg94Gln
NM_025215.5:c.365G>A	NP_079491.2:p.Arg122Gln
ENST00000322060.9:c.281G>A	ENSP00000324726.5:p.Arg94Gln
ENST00000376649.7:c.365G>A	ENSP00000365837.3:p.Arg122Gln
ENST00000443358.6:c.281G>A	ENSP00000392451.2:p.Arg94Gln
ENST00000456665.6:c.281G>A	ENSP00000409705.2:p.Arg94Gln
ENST00000535067.5:c.281G>A	ENSP00000443969.1:p.Arg94Gln
ENST00000537484.1:c.281G>A	ENSP00000440179.1:p.Arg94Gln
ENST00000538037.5:c.281G>A	ENSP00000440326.2:p.Arg94Gln
ENST00000542167.2:c.206G>A	ENSP00000438948.1:p.Arg69Gln
ENST00000544213.5:c.365G>A	ENSP00000445819.1:p.Arg122Gln
ENST00000544662.1:n.392G>A
XM_011538768.1:c.-35G>A	XP_011537070.1:n.-35G>A
XM_011538768.3:c.-35G>A	XP_011537070.1:n.-35G>A
XM_011538769.1:c.365G>A	XP_011537071.1:p.Arg122Gln
XM_011538769.2:c.365G>A	XP_011537071.1:p.Arg122Gln
XR_001748872.1:n.820G>A
XR_944737.1:n.820G>A