Canonical Allele Identifier: CA322892

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941568G>A , CM000674.2:g.131941568G>A	GRCh38
NC_000012.11:g.132426113G>A , CM000674.1:g.132426113G>A	GRCh37
NC_000012.10:g.130992066G>A	NCBI36
NG_013039.1:g.17369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.821G>A MANE Select	ENSP00000365837.3:p.Arg274Gln
ENST00000322060.9:c.737G>A	ENSP00000324726.5:p.Arg246Gln
ENST00000376649.7:c.821G>A	ENSP00000365837.3:p.Arg274Gln
ENST00000443358.6:c.737G>A	ENSP00000392451.2:p.Arg246Gln
ENST00000535067.5:c.358-1971G>A	ENSP00000443969.1:n.358-1971G>A
ENST00000542167.2:c.662G>A	ENSP00000438948.1:p.Arg221Gln
ENST00000543754.1:n.642G>A
NM_001002019.2:c.737G>A	NP_001002019.1:p.Arg246Gln
NM_001002020.2:c.737G>A	NP_001002020.1:p.Arg246Gln
NM_025215.5:c.821G>A	NP_079491.2:p.Arg274Gln
XM_011538768.1:c.422G>A	XP_011537070.1:p.Arg141Gln
XM_011538768.3:c.422G>A	XP_011537070.1:p.Arg141Gln
XR_001748872.1:n.1276G>A
NM_001002019.3:c.737G>A	NP_001002019.1:p.Arg246Gln
NM_001002020.3:c.737G>A	NP_001002020.1:p.Arg246Gln
NM_025215.6:c.821G>A MANE Select	NP_079491.2:p.Arg274Gln