Canonical Allele Identifier: CA6884205

Gene: PUS1

Linked Data

• dbSNP Id: rs746648228
• ExAC: 12:132425929 A / G
• gnomAD v2: 12-132425929-A-G
• gnomAD v4: 12-131941384-A-G
• MyVariant Identifiers: chr12:g.132425929A>G (hg19) ; chr12:g.131941384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941384A>G , CM000674.2:g.131941384A>G	GRCh38
NC_000012.11:g.132425929A>G , CM000674.1:g.132425929A>G	GRCh37
NC_000012.10:g.130991882A>G	NCBI36
NG_013039.1:g.17185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.637A>G MANE Select	ENSP00000365837.3:p.Lys213Glu
ENST00000322060.9:c.553A>G	ENSP00000324726.5:p.Lys185Glu
ENST00000376649.7:c.637A>G	ENSP00000365837.3:p.Lys213Glu
ENST00000443358.6:c.553A>G	ENSP00000392451.2:p.Lys185Glu
ENST00000535067.5:c.358-2155A>G	ENSP00000443969.1:n.358-2155A>G
ENST00000537484.1:c.562A>G	ENSP00000440179.1:p.Lys188Glu
ENST00000542167.2:c.478A>G	ENSP00000438948.1:p.Lys160Glu
ENST00000543754.1:n.458A>G
NM_001002019.2:c.553A>G	NP_001002019.1:p.Lys185Glu
NM_001002020.2:c.553A>G	NP_001002020.1:p.Lys185Glu
NM_025215.5:c.637A>G	NP_079491.2:p.Lys213Glu
XM_011538768.1:c.238A>G	XP_011537070.1:p.Lys80Glu
XM_011538768.3:c.238A>G	XP_011537070.1:p.Lys80Glu
XR_001748872.1:n.1092A>G
NM_001002019.3:c.553A>G	NP_001002019.1:p.Lys185Glu
NM_001002020.3:c.553A>G	NP_001002020.1:p.Lys185Glu
NM_025215.6:c.637A>G MANE Select	NP_079491.2:p.Lys213Glu