Canonical Allele Identifier: CA387299318

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426146A>T (hg19) ; chr12:g.131941601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941601A>T , CM000674.2:g.131941601A>T	GRCh38
NC_000012.11:g.132426146A>T , CM000674.1:g.132426146A>T	GRCh37
NC_000012.10:g.130992099A>T	NCBI36
NG_013039.1:g.17402A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.854A>T MANE Select	ENSP00000365837.3:p.Lys285Met
ENST00000322060.9:c.770A>T	ENSP00000324726.5:p.Lys257Met
ENST00000376649.7:c.854A>T	ENSP00000365837.3:p.Lys285Met
ENST00000443358.6:c.770A>T	ENSP00000392451.2:p.Lys257Met
ENST00000535067.5:c.358-1938A>T	ENSP00000443969.1:n.358-1938A>T
ENST00000542167.2:c.695A>T	ENSP00000438948.1:p.Lys232Met
ENST00000543754.1:n.675A>T
NM_001002019.2:c.770A>T	NP_001002019.1:p.Lys257Met
NM_001002020.2:c.770A>T	NP_001002020.1:p.Lys257Met
NM_025215.5:c.854A>T	NP_079491.2:p.Lys285Met
XM_011538768.1:c.455A>T	XP_011537070.1:p.Lys152Met
XM_011538768.3:c.455A>T	XP_011537070.1:p.Lys152Met
XR_001748872.1:n.1309A>T
NM_001002019.3:c.770A>T	NP_001002019.1:p.Lys257Met
NM_001002020.3:c.770A>T	NP_001002020.1:p.Lys257Met
NM_025215.6:c.854A>T MANE Select	NP_079491.2:p.Lys285Met