Canonical Allele Identifier: CA387299115

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2056848
• ClinVar RCV Id: RCV002914710
• MyVariant Identifiers: chr12:g.132426049G>T (hg19) ; chr12:g.131941504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941504G>T , CM000674.2:g.131941504G>T	GRCh38
NC_000012.11:g.132426049G>T , CM000674.1:g.132426049G>T	GRCh37
NC_000012.10:g.130992002G>T	NCBI36
NG_013039.1:g.17305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.757G>T MANE Select	ENSP00000365837.3:p.Gly253Trp
ENST00000322060.9:c.673G>T	ENSP00000324726.5:p.Gly225Trp
ENST00000376649.7:c.757G>T	ENSP00000365837.3:p.Gly253Trp
ENST00000443358.6:c.673G>T	ENSP00000392451.2:p.Gly225Trp
ENST00000535067.5:c.358-2035G>T	ENSP00000443969.1:n.358-2035G>T
ENST00000542167.2:c.598G>T	ENSP00000438948.1:p.Gly200Trp
ENST00000543754.1:n.578G>T
NM_001002019.2:c.673G>T	NP_001002019.1:p.Gly225Trp
NM_001002020.2:c.673G>T	NP_001002020.1:p.Gly225Trp
NM_025215.5:c.757G>T	NP_079491.2:p.Gly253Trp
XM_011538768.1:c.358G>T	XP_011537070.1:p.Gly120Trp
XM_011538768.3:c.358G>T	XP_011537070.1:p.Gly120Trp
XR_001748872.1:n.1212G>T
NM_001002019.3:c.673G>T	NP_001002019.1:p.Gly225Trp
NM_001002020.3:c.673G>T	NP_001002020.1:p.Gly225Trp
NM_025215.6:c.757G>T MANE Select	NP_079491.2:p.Gly253Trp