Canonical Allele Identifier: CA6884202

Gene: PUS1

Linked Data

• dbSNP Id: rs749757189
• ExAC: 12:132425918 C / T
• gnomAD v2: 12-132425918-C-T
• gnomAD v4: 12-131941373-C-T
• MyVariant Identifiers: chr12:g.132425918C>T (hg19) ; chr12:g.131941373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941373C>T , CM000674.2:g.131941373C>T	GRCh38
NC_000012.11:g.132425918C>T , CM000674.1:g.132425918C>T	GRCh37
NC_000012.10:g.130991871C>T	NCBI36
NG_013039.1:g.17174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.626C>T MANE Select	ENSP00000365837.3:p.Ala209Val
ENST00000322060.9:c.542C>T	ENSP00000324726.5:p.Ala181Val
ENST00000376649.7:c.626C>T	ENSP00000365837.3:p.Ala209Val
ENST00000443358.6:c.542C>T	ENSP00000392451.2:p.Ala181Val
ENST00000535067.5:c.358-2166C>T	ENSP00000443969.1:n.358-2166C>T
ENST00000537484.1:c.551C>T	ENSP00000440179.1:p.Ala184Val
ENST00000542167.2:c.467C>T	ENSP00000438948.1:p.Ala156Val
ENST00000543754.1:n.447C>T
NM_001002019.2:c.542C>T	NP_001002019.1:p.Ala181Val
NM_001002020.2:c.542C>T	NP_001002020.1:p.Ala181Val
NM_025215.5:c.626C>T	NP_079491.2:p.Ala209Val
XM_011538768.1:c.227C>T	XP_011537070.1:p.Ala76Val
XM_011538768.3:c.227C>T	XP_011537070.1:p.Ala76Val
XR_001748872.1:n.1081C>T
NM_001002019.3:c.542C>T	NP_001002019.1:p.Ala181Val
NM_001002020.3:c.542C>T	NP_001002020.1:p.Ala181Val
NM_025215.6:c.626C>T MANE Select	NP_079491.2:p.Ala209Val