Canonical Allele Identifier: CA387298944

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941424-C-G
• MyVariant Identifiers: chr12:g.132425969C>G (hg19) ; chr12:g.131941424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941424C>G , CM000674.2:g.131941424C>G	GRCh38
NC_000012.11:g.132425969C>G , CM000674.1:g.132425969C>G	GRCh37
NC_000012.10:g.130991922C>G	NCBI36
NG_013039.1:g.17225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.677C>G MANE Select	ENSP00000365837.3:p.Ala226Gly
ENST00000322060.9:c.593C>G	ENSP00000324726.5:p.Ala198Gly
ENST00000376649.7:c.677C>G	ENSP00000365837.3:p.Ala226Gly
ENST00000443358.6:c.593C>G	ENSP00000392451.2:p.Ala198Gly
ENST00000535067.5:c.358-2115C>G	ENSP00000443969.1:n.358-2115C>G
ENST00000542167.2:c.518C>G	ENSP00000438948.1:p.Ala173Gly
ENST00000543754.1:n.498C>G
NM_001002019.2:c.593C>G	NP_001002019.1:p.Ala198Gly
NM_001002020.2:c.593C>G	NP_001002020.1:p.Ala198Gly
NM_025215.5:c.677C>G	NP_079491.2:p.Ala226Gly
XM_011538768.1:c.278C>G	XP_011537070.1:p.Ala93Gly
XM_011538768.3:c.278C>G	XP_011537070.1:p.Ala93Gly
XR_001748872.1:n.1132C>G
NM_001002019.3:c.593C>G	NP_001002019.1:p.Ala198Gly
NM_001002020.3:c.593C>G	NP_001002020.1:p.Ala198Gly
NM_025215.6:c.677C>G MANE Select	NP_079491.2:p.Ala226Gly