Canonical Allele Identifier: CA6884284

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941719C>T , CM000674.2:g.131941719C>T	GRCh38
NC_000012.11:g.132426264C>T , CM000674.1:g.132426264C>T	GRCh37
NC_000012.10:g.130992217C>T	NCBI36
NG_013039.1:g.17520C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.972C>T MANE Select	NP_079491.2:p.Asp324=
ENST00000376649.8:c.972C>T MANE Select	ENSP00000365837.3:p.Asp324=
NM_001002019.2:c.888C>T	NP_001002019.1:p.Asp296=
NM_001002019.3:c.888C>T	NP_001002019.1:p.Asp296=
NM_001002020.2:c.888C>T	NP_001002020.1:p.Asp296=
NM_001002020.3:c.888C>T	NP_001002020.1:p.Asp296=
NM_025215.5:c.972C>T	NP_079491.2:p.Asp324=
ENST00000322060.9:c.888C>T	ENSP00000324726.5:p.Asp296=
ENST00000376649.7:c.972C>T	ENSP00000365837.3:p.Asp324=
ENST00000443358.6:c.888C>T	ENSP00000392451.2:p.Asp296=
ENST00000535067.5:c.358-1820C>T	ENSP00000443969.1:n.358-1820C>T
ENST00000542167.2:c.813C>T	ENSP00000438948.1:p.Asp271=
ENST00000543754.1:n.793C>T
XM_011538768.1:c.573C>T	XP_011537070.1:p.Asp191=
XM_011538768.3:c.573C>T	XP_011537070.1:p.Asp191=
XR_001748872.1:n.1427C>T