Canonical Allele Identifier: CA387298469

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131939191C>T , CM000674.2:g.131939191C>T	GRCh38
NC_000012.11:g.132423736C>T , CM000674.1:g.132423736C>T	GRCh37
NC_000012.10:g.130989689C>T	NCBI36
NG_013039.1:g.14992C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.460C>T MANE Select	NP_079491.2:p.Gln154Ter
ENST00000376649.8:c.460C>T MANE Select	ENSP00000365837.3:p.Gln154Ter
NM_001002019.2:c.376C>T	NP_001002019.1:p.Gln126Ter
NM_001002019.3:c.376C>T	NP_001002019.1:p.Gln126Ter
NM_001002020.2:c.376C>T	NP_001002020.1:p.Gln126Ter
NM_001002020.3:c.376C>T	NP_001002020.1:p.Gln126Ter
NM_025215.5:c.460C>T	NP_079491.2:p.Gln154Ter
ENST00000322060.9:c.376C>T	ENSP00000324726.5:p.Gln126Ter
ENST00000376649.7:c.460C>T	ENSP00000365837.3:p.Gln154Ter
ENST00000443358.6:c.376C>T	ENSP00000392451.2:p.Gln126Ter
ENST00000535067.5:c.358-4348C>T	ENSP00000443969.1:n.358-4348C>T
ENST00000537484.1:c.470-2101C>T	ENSP00000440179.1:n.470-2101C>T
ENST00000538037.5:c.376C>T	ENSP00000440326.2:p.Gln126Ter
ENST00000542167.2:c.301C>T	ENSP00000438948.1:p.Gln101Ter
XM_011538768.1:c.61C>T	XP_011537070.1:p.Gln21Ter
XM_011538768.3:c.61C>T	XP_011537070.1:p.Gln21Ter
XR_001748872.1:n.915C>T