Canonical Allele Identifier: CA6884379

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131943537A>G , CM000674.2:g.131943537A>G	GRCh38
NC_000012.11:g.132428082A>G , CM000674.1:g.132428082A>G	GRCh37
NC_000012.10:g.130994035A>G	NCBI36
NG_013039.1:g.19338A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.1237-2A>G MANE Select	NP_079491.2:n.1237-2A>G
ENST00000376649.8:c.1237-2A>G MANE Select	ENSP00000365837.3:n.1237-2A>G
NM_001002019.2:c.1153-2A>G	NP_001002019.1:n.1153-2A>G
NM_001002019.3:c.1153-2A>G	NP_001002019.1:n.1153-2A>G
NM_001002020.2:c.1153-2A>G	NP_001002020.1:n.1153-2A>G
NM_001002020.3:c.1153-2A>G	NP_001002020.1:n.1153-2A>G
NM_025215.5:c.1237-2A>G	NP_079491.2:n.1237-2A>G
ENST00000376649.7:c.1237-2A>G	ENSP00000365837.3:n.1237-2A>G
ENST00000443358.6:c.1153-2A>G	ENSP00000392451.2:n.1153-2A>G
ENST00000535067.5:c.358-2A>G	ENSP00000443969.1:n.358-2A>G
ENST00000542167.2:c.1078-2A>G	ENSP00000438948.1:n.1078-2A>G
ENST00000543754.1:n.1058-2A>G
XM_011538768.1:c.838-2A>G	XP_011537070.1:n.838-2A>G
XM_011538768.3:c.838-2A>G	XP_011537070.1:n.838-2A>G
XR_001748872.1:n.1692-2A>G