Canonical Allele Identifier: CA482841617

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2042965
• ClinVar RCV Id: RCV002908335
• dbSNP Id: rs770364021
• gnomAD v2: 12-132425853-G-T
• gnomAD v4: 12-131941308-G-T
• MyVariant Identifiers: chr12:g.132425853G>T (hg19) ; chr12:g.131941308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941308G>T , CM000674.2:g.131941308G>T	GRCh38
NC_000012.11:g.132425853G>T , CM000674.1:g.132425853G>T	GRCh37
NC_000012.10:g.130991806G>T	NCBI36
NG_013039.1:g.17109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.561G>T MANE Select	ENSP00000365837.3:p.Thr187=
ENST00000322060.9:c.477G>T	ENSP00000324726.5:p.Thr159=
ENST00000376649.7:c.561G>T	ENSP00000365837.3:p.Thr187=
ENST00000443358.6:c.477G>T	ENSP00000392451.2:p.Thr159=
ENST00000535067.5:c.358-2231G>T	ENSP00000443969.1:n.358-2231G>T
ENST00000537484.1:c.486G>T	ENSP00000440179.1:p.Thr162=
ENST00000542167.2:c.402G>T	ENSP00000438948.1:p.Thr134=
ENST00000543754.1:n.382G>T
NM_001002019.2:c.477G>T	NP_001002019.1:p.Thr159=
NM_001002020.2:c.477G>T	NP_001002020.1:p.Thr159=
NM_025215.5:c.561G>T	NP_079491.2:p.Thr187=
XM_011538768.1:c.162G>T	XP_011537070.1:p.Thr54=
XM_011538768.3:c.162G>T	XP_011537070.1:p.Thr54=
XR_001748872.1:n.1016G>T
NM_001002019.3:c.477G>T	NP_001002019.1:p.Thr159=
NM_001002020.3:c.477G>T	NP_001002020.1:p.Thr159=
NM_025215.6:c.561G>T MANE Select	NP_079491.2:p.Thr187=