Canonical Allele Identifier: CA482842049

Gene: PUS1

Linked Data

• ClinVar Variation Id: 1626345
• ClinVar RCV Id: RCV002120448
• dbSNP Id: rs1414446663
• gnomAD v4: 12-131941452-C-T
• MyVariant Identifiers: chr12:g.132425997C>T (hg19) ; chr12:g.131941452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941452C>T , CM000674.2:g.131941452C>T	GRCh38
NC_000012.11:g.132425997C>T , CM000674.1:g.132425997C>T	GRCh37
NC_000012.10:g.130991950C>T	NCBI36
NG_013039.1:g.17253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.705C>T MANE Select	ENSP00000365837.3:p.Leu235=
ENST00000322060.9:c.621C>T	ENSP00000324726.5:p.Leu207=
ENST00000376649.7:c.705C>T	ENSP00000365837.3:p.Leu235=
ENST00000443358.6:c.621C>T	ENSP00000392451.2:p.Leu207=
ENST00000535067.5:c.358-2087C>T	ENSP00000443969.1:n.358-2087C>T
ENST00000542167.2:c.546C>T	ENSP00000438948.1:p.Leu182=
ENST00000543754.1:n.526C>T
NM_001002019.2:c.621C>T	NP_001002019.1:p.Leu207=
NM_001002020.2:c.621C>T	NP_001002020.1:p.Leu207=
NM_025215.5:c.705C>T	NP_079491.2:p.Leu235=
XM_011538768.1:c.306C>T	XP_011537070.1:p.Leu102=
XM_011538768.3:c.306C>T	XP_011537070.1:p.Leu102=
XR_001748872.1:n.1160C>T
NM_001002019.3:c.621C>T	NP_001002019.1:p.Leu207=
NM_001002020.3:c.621C>T	NP_001002020.1:p.Leu207=
NM_025215.6:c.705C>T MANE Select	NP_079491.2:p.Leu235=