Canonical Allele Identifier: CA6884266

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941651G>A , CM000674.2:g.131941651G>A	GRCh38
NC_000012.11:g.132426196G>A , CM000674.1:g.132426196G>A	GRCh37
NC_000012.10:g.130992149G>A	NCBI36
NG_013039.1:g.17452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.904G>A MANE Select	NP_079491.2:p.Val302Met
ENST00000376649.8:c.904G>A MANE Select	ENSP00000365837.3:p.Val302Met
NM_001002019.2:c.820G>A	NP_001002019.1:p.Val274Met
NM_001002019.3:c.820G>A	NP_001002019.1:p.Val274Met
NM_001002020.2:c.820G>A	NP_001002020.1:p.Val274Met
NM_001002020.3:c.820G>A	NP_001002020.1:p.Val274Met
NM_025215.5:c.904G>A	NP_079491.2:p.Val302Met
ENST00000322060.9:c.820G>A	ENSP00000324726.5:p.Val274Met
ENST00000376649.7:c.904G>A	ENSP00000365837.3:p.Val302Met
ENST00000443358.6:c.820G>A	ENSP00000392451.2:p.Val274Met
ENST00000535067.5:c.358-1888G>A	ENSP00000443969.1:n.358-1888G>A
ENST00000542167.2:c.745G>A	ENSP00000438948.1:p.Val249Met
ENST00000543754.1:n.725G>A
XM_011538768.1:c.505G>A	XP_011537070.1:p.Val169Met
XM_011538768.3:c.505G>A	XP_011537070.1:p.Val169Met
XR_001748872.1:n.1359G>A