Canonical Allele Identifier: CA246187171

Gene: PUS1

Linked Data

• dbSNP Id: rs369787595
• gnomAD v4: 12-131941438-C-G
• MyVariant Identifiers: chr12:g.132425983C>G (hg19) ; chr12:g.131941438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941438C>G , CM000674.2:g.131941438C>G	GRCh38
NC_000012.11:g.132425983C>G , CM000674.1:g.132425983C>G	GRCh37
NC_000012.10:g.130991936C>G	NCBI36
NG_013039.1:g.17239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.691C>G MANE Select	ENSP00000365837.3:p.Gln231Glu
ENST00000322060.9:c.607C>G	ENSP00000324726.5:p.Gln203Glu
ENST00000376649.7:c.691C>G	ENSP00000365837.3:p.Gln231Glu
ENST00000443358.6:c.607C>G	ENSP00000392451.2:p.Gln203Glu
ENST00000535067.5:c.358-2101C>G	ENSP00000443969.1:n.358-2101C>G
ENST00000542167.2:c.532C>G	ENSP00000438948.1:p.Gln178Glu
ENST00000543754.1:n.512C>G
NM_001002019.2:c.607C>G	NP_001002019.1:p.Gln203Glu
NM_001002020.2:c.607C>G	NP_001002020.1:p.Gln203Glu
NM_025215.5:c.691C>G	NP_079491.2:p.Gln231Glu
XM_011538768.1:c.292C>G	XP_011537070.1:p.Gln98Glu
XM_011538768.3:c.292C>G	XP_011537070.1:p.Gln98Glu
XR_001748872.1:n.1146C>G
NM_001002019.3:c.607C>G	NP_001002019.1:p.Gln203Glu
NM_001002020.3:c.607C>G	NP_001002020.1:p.Gln203Glu
NM_025215.6:c.691C>G MANE Select	NP_079491.2:p.Gln231Glu