Canonical Allele Identifier: CA6884203

Gene: PUS1

Linked Data

• dbSNP Id: rs559054645
• ExAC: 12:132425924 C / T
• gnomAD v2: 12-132425924-C-T
• gnomAD v3: 12-131941379-C-T
• gnomAD v4: 12-131941379-C-T
• MyVariant Identifiers: chr12:g.132425924C>T (hg19) ; chr12:g.131941379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941379C>T , CM000674.2:g.131941379C>T	GRCh38
NC_000012.11:g.132425924C>T , CM000674.1:g.132425924C>T	GRCh37
NC_000012.10:g.130991877C>T	NCBI36
NG_013039.1:g.17180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.632C>T MANE Select	ENSP00000365837.3:p.Ala211Val
ENST00000322060.9:c.548C>T	ENSP00000324726.5:p.Ala183Val
ENST00000376649.7:c.632C>T	ENSP00000365837.3:p.Ala211Val
ENST00000443358.6:c.548C>T	ENSP00000392451.2:p.Ala183Val
ENST00000535067.5:c.358-2160C>T	ENSP00000443969.1:n.358-2160C>T
ENST00000537484.1:c.557C>T	ENSP00000440179.1:p.Ala186Val
ENST00000542167.2:c.473C>T	ENSP00000438948.1:p.Ala158Val
ENST00000543754.1:n.453C>T
NM_001002019.2:c.548C>T	NP_001002019.1:p.Ala183Val
NM_001002020.2:c.548C>T	NP_001002020.1:p.Ala183Val
NM_025215.5:c.632C>T	NP_079491.2:p.Ala211Val
XM_011538768.1:c.233C>T	XP_011537070.1:p.Ala78Val
XM_011538768.3:c.233C>T	XP_011537070.1:p.Ala78Val
XR_001748872.1:n.1087C>T
NM_001002019.3:c.548C>T	NP_001002019.1:p.Ala183Val
NM_001002020.3:c.548C>T	NP_001002020.1:p.Ala183Val
NM_025215.6:c.632C>T MANE Select	NP_079491.2:p.Ala211Val