Canonical Allele Identifier: CA6884031

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131930048T>C , CM000674.2:g.131930048T>C	GRCh38
NC_000012.11:g.132414593T>C , CM000674.1:g.132414593T>C	GRCh37
NC_000012.10:g.130980546T>C	NCBI36
NG_013039.1:g.5849T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.216T>C MANE Select	NP_079491.2:p.Gly72=
ENST00000376649.8:c.216T>C MANE Select	ENSP00000365837.3:p.Gly72=
NM_001002019.2:c.132T>C	NP_001002019.1:p.Gly44=
NM_001002019.3:c.132T>C	NP_001002019.1:p.Gly44=
NM_001002020.2:c.132T>C	NP_001002020.1:p.Gly44=
NM_001002020.3:c.132T>C	NP_001002020.1:p.Gly44=
NM_025215.5:c.216T>C	NP_079491.2:p.Gly72=
ENST00000322060.9:c.132T>C	ENSP00000324726.5:p.Gly44=
ENST00000376649.7:c.216T>C	ENSP00000365837.3:p.Gly72=
ENST00000443358.6:c.132T>C	ENSP00000392451.2:p.Gly44=
ENST00000456665.6:c.132T>C	ENSP00000409705.2:p.Gly44=
ENST00000535067.5:c.132T>C	ENSP00000443969.1:p.Gly44=
ENST00000537484.1:c.132T>C	ENSP00000440179.1:p.Gly44=
ENST00000538037.5:c.132T>C	ENSP00000440326.2:p.Gly44=
ENST00000542167.2:c.-517+536T>C	ENSP00000438948.1:n.-517+536T>C
ENST00000544213.5:c.216T>C	ENSP00000445819.1:p.Gly72=
ENST00000544662.1:n.243T>C
XM_011538769.1:c.216T>C	XP_011537071.1:p.Gly72=
XM_011538769.2:c.216T>C	XP_011537071.1:p.Gly72=
XR_001748872.1:n.671T>C
XR_944737.1:n.671T>C