Canonical Allele Identifier: CA323140

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941887C>T , CM000674.2:g.131941887C>T	GRCh38
NC_000012.11:g.132426432C>T , CM000674.1:g.132426432C>T	GRCh37
NC_000012.10:g.130992385C>T	NCBI36
NG_013039.1:g.17688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.1140C>T MANE Select	ENSP00000365837.3:p.Thr380=
ENST00000322060.9:c.1056C>T	ENSP00000324726.5:p.Thr352=
ENST00000376649.7:c.1140C>T	ENSP00000365837.3:p.Thr380=
ENST00000443358.6:c.1056C>T	ENSP00000392451.2:p.Thr352=
ENST00000535067.5:c.358-1652C>T	ENSP00000443969.1:n.358-1652C>T
ENST00000542167.2:c.981C>T	ENSP00000438948.1:p.Thr327=
ENST00000543754.1:n.961C>T
NM_001002019.2:c.1056C>T	NP_001002019.1:p.Thr352=
NM_001002020.2:c.1056C>T	NP_001002020.1:p.Thr352=
NM_025215.5:c.1140C>T	NP_079491.2:p.Thr380=
XM_011538768.1:c.741C>T	XP_011537070.1:p.Thr247=
XM_011538768.3:c.741C>T	XP_011537070.1:p.Thr247=
XR_001748872.1:n.1595C>T
NM_001002019.3:c.1056C>T	NP_001002019.1:p.Thr352=
NM_001002020.3:c.1056C>T	NP_001002020.1:p.Thr352=
NM_025215.6:c.1140C>T MANE Select	NP_079491.2:p.Thr380=