Canonical Allele Identifier: CA387299155

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426067G>T (hg19) ; chr12:g.131941522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941522G>T , CM000674.2:g.131941522G>T	GRCh38
NC_000012.11:g.132426067G>T , CM000674.1:g.132426067G>T	GRCh37
NC_000012.10:g.130992020G>T	NCBI36
NG_013039.1:g.17323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.775G>T MANE Select	ENSP00000365837.3:p.Ala259Ser
ENST00000322060.9:c.691G>T	ENSP00000324726.5:p.Ala231Ser
ENST00000376649.7:c.775G>T	ENSP00000365837.3:p.Ala259Ser
ENST00000443358.6:c.691G>T	ENSP00000392451.2:p.Ala231Ser
ENST00000535067.5:c.358-2017G>T	ENSP00000443969.1:n.358-2017G>T
ENST00000542167.2:c.616G>T	ENSP00000438948.1:p.Ala206Ser
ENST00000543754.1:n.596G>T
NM_001002019.2:c.691G>T	NP_001002019.1:p.Ala231Ser
NM_001002020.2:c.691G>T	NP_001002020.1:p.Ala231Ser
NM_025215.5:c.775G>T	NP_079491.2:p.Ala259Ser
XM_011538768.1:c.376G>T	XP_011537070.1:p.Ala126Ser
XM_011538768.3:c.376G>T	XP_011537070.1:p.Ala126Ser
XR_001748872.1:n.1230G>T
NM_001002019.3:c.691G>T	NP_001002019.1:p.Ala231Ser
NM_001002020.3:c.691G>T	NP_001002020.1:p.Ala231Ser
NM_025215.6:c.775G>T MANE Select	NP_079491.2:p.Ala259Ser