Canonical Allele Identifier: CA387299454

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941663A>T , CM000674.2:g.131941663A>T	GRCh38
NC_000012.11:g.132426208A>T , CM000674.1:g.132426208A>T	GRCh37
NC_000012.10:g.130992161A>T	NCBI36
NG_013039.1:g.17464A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.916A>T MANE Select	NP_079491.2:p.Lys306Ter
ENST00000376649.8:c.916A>T MANE Select	ENSP00000365837.3:p.Lys306Ter
NM_001002019.2:c.832A>T	NP_001002019.1:p.Lys278Ter
NM_001002019.3:c.832A>T	NP_001002019.1:p.Lys278Ter
NM_001002020.2:c.832A>T	NP_001002020.1:p.Lys278Ter
NM_001002020.3:c.832A>T	NP_001002020.1:p.Lys278Ter
NM_025215.5:c.916A>T	NP_079491.2:p.Lys306Ter
ENST00000322060.9:c.832A>T	ENSP00000324726.5:p.Lys278Ter
ENST00000376649.7:c.916A>T	ENSP00000365837.3:p.Lys306Ter
ENST00000443358.6:c.832A>T	ENSP00000392451.2:p.Lys278Ter
ENST00000535067.5:c.358-1876A>T	ENSP00000443969.1:n.358-1876A>T
ENST00000542167.2:c.757A>T	ENSP00000438948.1:p.Lys253Ter
ENST00000543754.1:n.737A>T
XM_011538768.1:c.517A>T	XP_011537070.1:p.Lys173Ter
XM_011538768.3:c.517A>T	XP_011537070.1:p.Lys173Ter
XR_001748872.1:n.1371A>T