Canonical Allele Identifier: CA482842011

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425976G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941431G>T , CM000674.2:g.131941431G>T	GRCh38
NC_000012.11:g.132425976G>T , CM000674.1:g.132425976G>T	GRCh37
NC_000012.10:g.130991929G>T	NCBI36
NG_013039.1:g.17232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.684G>T MANE Select	ENSP00000365837.3:p.Thr228=
ENST00000322060.9:c.600G>T	ENSP00000324726.5:p.Thr200=
ENST00000376649.7:c.684G>T	ENSP00000365837.3:p.Thr228=
ENST00000443358.6:c.600G>T	ENSP00000392451.2:p.Thr200=
ENST00000535067.5:c.358-2108G>T	ENSP00000443969.1:n.358-2108G>T
ENST00000542167.2:c.525G>T	ENSP00000438948.1:p.Thr175=
ENST00000543754.1:n.505G>T
NM_001002019.2:c.600G>T	NP_001002019.1:p.Thr200=
NM_001002020.2:c.600G>T	NP_001002020.1:p.Thr200=
NM_025215.5:c.684G>T	NP_079491.2:p.Thr228=
XM_011538768.1:c.285G>T	XP_011537070.1:p.Thr95=
XM_011538768.3:c.285G>T	XP_011537070.1:p.Thr95=
XR_001748872.1:n.1139G>T
NM_001002019.3:c.600G>T	NP_001002019.1:p.Thr200=
NM_001002020.3:c.600G>T	NP_001002020.1:p.Thr200=
NM_025215.6:c.684G>T MANE Select	NP_079491.2:p.Thr228=