Canonical Allele Identifier: CA6884221

Gene: PUS1

Linked Data

• ClinVar Variation Id: 307703
• ClinVar RCV Id: RCV000404444 ; RCV003105863
• dbSNP Id: rs755448329
• ExAC: 12:132425975 C / T
• gnomAD v2: 12-132425975-C-T
• gnomAD v4: 12-131941430-C-T
• COSMIC: COSM937129
• MyVariant Identifiers: chr12:g.132425975C>T (hg19) ; chr12:g.131941430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941430C>T , CM000674.2:g.131941430C>T	GRCh38
NC_000012.11:g.132425975C>T , CM000674.1:g.132425975C>T	GRCh37
NC_000012.10:g.130991928C>T	NCBI36
NG_013039.1:g.17231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.683C>T MANE Select	ENSP00000365837.3:p.Thr228Met
ENST00000322060.9:c.599C>T	ENSP00000324726.5:p.Thr200Met
ENST00000376649.7:c.683C>T	ENSP00000365837.3:p.Thr228Met
ENST00000443358.6:c.599C>T	ENSP00000392451.2:p.Thr200Met
ENST00000535067.5:c.358-2109C>T	ENSP00000443969.1:n.358-2109C>T
ENST00000542167.2:c.524C>T	ENSP00000438948.1:p.Thr175Met
ENST00000543754.1:n.504C>T
NM_001002019.2:c.599C>T	NP_001002019.1:p.Thr200Met
NM_001002020.2:c.599C>T	NP_001002020.1:p.Thr200Met
NM_025215.5:c.683C>T	NP_079491.2:p.Thr228Met
XM_011538768.1:c.284C>T	XP_011537070.1:p.Thr95Met
XM_011538768.3:c.284C>T	XP_011537070.1:p.Thr95Met
XR_001748872.1:n.1138C>T
NM_001002019.3:c.599C>T	NP_001002019.1:p.Thr200Met
NM_001002020.3:c.599C>T	NP_001002020.1:p.Thr200Met
NM_025215.6:c.683C>T MANE Select	NP_079491.2:p.Thr228Met