Canonical Allele Identifier: CA246182023

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131930133C>T , CM000674.2:g.131930133C>T	GRCh38
NC_000012.11:g.132414678C>T , CM000674.1:g.132414678C>T	GRCh37
NC_000012.10:g.130980631C>T	NCBI36
NG_013039.1:g.5934C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.301C>T MANE Select	NP_079491.2:p.Gln101Ter
ENST00000376649.8:c.301C>T MANE Select	ENSP00000365837.3:p.Gln101Ter
NM_001002019.2:c.217C>T	NP_001002019.1:p.Gln73Ter
NM_001002019.3:c.217C>T	NP_001002019.1:p.Gln73Ter
NM_001002020.2:c.217C>T	NP_001002020.1:p.Gln73Ter
NM_001002020.3:c.217C>T	NP_001002020.1:p.Gln73Ter
NM_025215.5:c.301C>T	NP_079491.2:p.Gln101Ter
ENST00000322060.9:c.217C>T	ENSP00000324726.5:p.Gln73Ter
ENST00000376649.7:c.301C>T	ENSP00000365837.3:p.Gln101Ter
ENST00000443358.6:c.217C>T	ENSP00000392451.2:p.Gln73Ter
ENST00000456665.6:c.217C>T	ENSP00000409705.2:p.Gln73Ter
ENST00000535067.5:c.217C>T	ENSP00000443969.1:p.Gln73Ter
ENST00000537484.1:c.217C>T	ENSP00000440179.1:p.Gln73Ter
ENST00000538037.5:c.217C>T	ENSP00000440326.2:p.Gln73Ter
ENST00000542167.2:c.-517+621C>T	ENSP00000438948.1:n.-517+621C>T
ENST00000544213.5:c.301C>T	ENSP00000445819.1:p.Gln101Ter
ENST00000544662.1:n.328C>T
XM_011538769.1:c.301C>T	XP_011537071.1:p.Gln101Ter
XM_011538769.2:c.301C>T	XP_011537071.1:p.Gln101Ter
XR_001748872.1:n.756C>T
XR_944737.1:n.756C>T