Canonical Allele Identifier: CA6884233

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2643613
• ClinVar RCV Id: RCV003398284
• dbSNP Id: rs771814798
• ExAC: 12:132426041 C / T
• gnomAD v2: 12-132426041-C-T
• gnomAD v3: 12-131941496-C-T
• gnomAD v4: 12-131941496-C-T
• MyVariant Identifiers: chr12:g.132426041C>T (hg19) ; chr12:g.131941496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941496C>T , CM000674.2:g.131941496C>T	GRCh38
NC_000012.11:g.132426041C>T , CM000674.1:g.132426041C>T	GRCh37
NC_000012.10:g.130991994C>T	NCBI36
NG_013039.1:g.17297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.749C>T MANE Select	ENSP00000365837.3:p.Ser250Leu
ENST00000322060.9:c.665C>T	ENSP00000324726.5:p.Ser222Leu
ENST00000376649.7:c.749C>T	ENSP00000365837.3:p.Ser250Leu
ENST00000443358.6:c.665C>T	ENSP00000392451.2:p.Ser222Leu
ENST00000535067.5:c.358-2043C>T	ENSP00000443969.1:n.358-2043C>T
ENST00000542167.2:c.590C>T	ENSP00000438948.1:p.Ser197Leu
ENST00000543754.1:n.570C>T
NM_001002019.2:c.665C>T	NP_001002019.1:p.Ser222Leu
NM_001002020.2:c.665C>T	NP_001002020.1:p.Ser222Leu
NM_025215.5:c.749C>T	NP_079491.2:p.Ser250Leu
XM_011538768.1:c.350C>T	XP_011537070.1:p.Ser117Leu
XM_011538768.3:c.350C>T	XP_011537070.1:p.Ser117Leu
XR_001748872.1:n.1204C>T
NM_001002019.3:c.665C>T	NP_001002019.1:p.Ser222Leu
NM_001002020.3:c.665C>T	NP_001002020.1:p.Ser222Leu
NM_025215.6:c.749C>T MANE Select	NP_079491.2:p.Ser250Leu