Canonical Allele Identifier: CA387298793

Gene: PUS1

Linked Data

• dbSNP Id: rs2136443310
• gnomAD v4: 12-131941352-G-T
• MyVariant Identifiers: chr12:g.132425897G>T (hg19) ; chr12:g.131941352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941352G>T , CM000674.2:g.131941352G>T	GRCh38
NC_000012.11:g.132425897G>T , CM000674.1:g.132425897G>T	GRCh37
NC_000012.10:g.130991850G>T	NCBI36
NG_013039.1:g.17153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.605G>T MANE Select	ENSP00000365837.3:p.Cys202Phe
ENST00000322060.9:c.521G>T	ENSP00000324726.5:p.Cys174Phe
ENST00000376649.7:c.605G>T	ENSP00000365837.3:p.Cys202Phe
ENST00000443358.6:c.521G>T	ENSP00000392451.2:p.Cys174Phe
ENST00000535067.5:c.358-2187G>T	ENSP00000443969.1:n.358-2187G>T
ENST00000537484.1:c.530G>T	ENSP00000440179.1:p.Cys177Phe
ENST00000542167.2:c.446G>T	ENSP00000438948.1:p.Cys149Phe
ENST00000543754.1:n.426G>T
NM_001002019.2:c.521G>T	NP_001002019.1:p.Cys174Phe
NM_001002020.2:c.521G>T	NP_001002020.1:p.Cys174Phe
NM_025215.5:c.605G>T	NP_079491.2:p.Cys202Phe
XM_011538768.1:c.206G>T	XP_011537070.1:p.Cys69Phe
XM_011538768.3:c.206G>T	XP_011537070.1:p.Cys69Phe
XR_001748872.1:n.1060G>T
NM_001002019.3:c.521G>T	NP_001002019.1:p.Cys174Phe
NM_001002020.3:c.521G>T	NP_001002020.1:p.Cys174Phe
NM_025215.6:c.605G>T MANE Select	NP_079491.2:p.Cys202Phe