Canonical Allele Identifier: CA387299118

Gene: PUS1

Linked Data

• dbSNP Id: rs1891064919
• gnomAD v4: 12-131941505-G-T
• MyVariant Identifiers: chr12:g.132426050G>T (hg19) ; chr12:g.131941505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941505G>T , CM000674.2:g.131941505G>T	GRCh38
NC_000012.11:g.132426050G>T , CM000674.1:g.132426050G>T	GRCh37
NC_000012.10:g.130992003G>T	NCBI36
NG_013039.1:g.17306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.758G>T MANE Select	ENSP00000365837.3:p.Gly253Val
ENST00000322060.9:c.674G>T	ENSP00000324726.5:p.Gly225Val
ENST00000376649.7:c.758G>T	ENSP00000365837.3:p.Gly253Val
ENST00000443358.6:c.674G>T	ENSP00000392451.2:p.Gly225Val
ENST00000535067.5:c.358-2034G>T	ENSP00000443969.1:n.358-2034G>T
ENST00000542167.2:c.599G>T	ENSP00000438948.1:p.Gly200Val
ENST00000543754.1:n.579G>T
NM_001002019.2:c.674G>T	NP_001002019.1:p.Gly225Val
NM_001002020.2:c.674G>T	NP_001002020.1:p.Gly225Val
NM_025215.5:c.758G>T	NP_079491.2:p.Gly253Val
XM_011538768.1:c.359G>T	XP_011537070.1:p.Gly120Val
XM_011538768.3:c.359G>T	XP_011537070.1:p.Gly120Val
XR_001748872.1:n.1213G>T
NM_001002019.3:c.674G>T	NP_001002019.1:p.Gly225Val
NM_001002020.3:c.674G>T	NP_001002020.1:p.Gly225Val
NM_025215.6:c.758G>T MANE Select	NP_079491.2:p.Gly253Val