Canonical Allele Identifier: CA387299050

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941477-A-G
• MyVariant Identifiers: chr12:g.132426022A>G (hg19) ; chr12:g.131941477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941477A>G , CM000674.2:g.131941477A>G	GRCh38
NC_000012.11:g.132426022A>G , CM000674.1:g.132426022A>G	GRCh37
NC_000012.10:g.130991975A>G	NCBI36
NG_013039.1:g.17278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.730A>G MANE Select	ENSP00000365837.3:p.Asn244Asp
ENST00000322060.9:c.646A>G	ENSP00000324726.5:p.Asn216Asp
ENST00000376649.7:c.730A>G	ENSP00000365837.3:p.Asn244Asp
ENST00000443358.6:c.646A>G	ENSP00000392451.2:p.Asn216Asp
ENST00000535067.5:c.358-2062A>G	ENSP00000443969.1:n.358-2062A>G
ENST00000542167.2:c.571A>G	ENSP00000438948.1:p.Asn191Asp
ENST00000543754.1:n.551A>G
NM_001002019.2:c.646A>G	NP_001002019.1:p.Asn216Asp
NM_001002020.2:c.646A>G	NP_001002020.1:p.Asn216Asp
NM_025215.5:c.730A>G	NP_079491.2:p.Asn244Asp
XM_011538768.1:c.331A>G	XP_011537070.1:p.Asn111Asp
XM_011538768.3:c.331A>G	XP_011537070.1:p.Asn111Asp
XR_001748872.1:n.1185A>G
NM_001002019.3:c.646A>G	NP_001002019.1:p.Asn216Asp
NM_001002020.3:c.646A>G	NP_001002020.1:p.Asn216Asp
NM_025215.6:c.730A>G MANE Select	NP_079491.2:p.Asn244Asp