Canonical Allele Identifier: CA482841616

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425853G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941308G>C , CM000674.2:g.131941308G>C	GRCh38
NC_000012.11:g.132425853G>C , CM000674.1:g.132425853G>C	GRCh37
NC_000012.10:g.130991806G>C	NCBI36
NG_013039.1:g.17109G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.561G>C MANE Select	ENSP00000365837.3:p.Thr187=
ENST00000322060.9:c.477G>C	ENSP00000324726.5:p.Thr159=
ENST00000376649.7:c.561G>C	ENSP00000365837.3:p.Thr187=
ENST00000443358.6:c.477G>C	ENSP00000392451.2:p.Thr159=
ENST00000535067.5:c.358-2231G>C	ENSP00000443969.1:n.358-2231G>C
ENST00000537484.1:c.486G>C	ENSP00000440179.1:p.Thr162=
ENST00000542167.2:c.402G>C	ENSP00000438948.1:p.Thr134=
ENST00000543754.1:n.382G>C
NM_001002019.2:c.477G>C	NP_001002019.1:p.Thr159=
NM_001002020.2:c.477G>C	NP_001002020.1:p.Thr159=
NM_025215.5:c.561G>C	NP_079491.2:p.Thr187=
XM_011538768.1:c.162G>C	XP_011537070.1:p.Thr54=
XM_011538768.3:c.162G>C	XP_011537070.1:p.Thr54=
XR_001748872.1:n.1016G>C
NM_001002019.3:c.477G>C	NP_001002019.1:p.Thr159=
NM_001002020.3:c.477G>C	NP_001002020.1:p.Thr159=
NM_025215.6:c.561G>C MANE Select	NP_079491.2:p.Thr187=