Canonical Allele Identifier: CA387296926

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131929724T>G , CM000674.2:g.131929724T>G	GRCh38
NC_000012.11:g.132414269T>G , CM000674.1:g.132414269T>G	GRCh37
NC_000012.10:g.130980222T>G	NCBI36
NG_013039.1:g.5525T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.2T>G MANE Select	NP_079491.2:p.Met1Arg
ENST00000376649.8:c.2T>G MANE Select	ENSP00000365837.3:p.Met1Arg
NM_001002019.2:c.-10-183T>G	NP_001002019.1:n.-10-183T>G
NM_001002019.3:c.-10-183T>G	NP_001002019.1:n.-10-183T>G
NM_001002020.2:c.-10-183T>G	NP_001002020.1:n.-10-183T>G
NM_001002020.3:c.-10-183T>G	NP_001002020.1:n.-10-183T>G
NM_025215.5:c.2T>G	NP_079491.2:p.Met1Arg
ENST00000322060.9:c.-10-183T>G	ENSP00000324726.5:n.-10-183T>G
ENST00000376649.7:c.2T>G	ENSP00000365837.3:p.Met1Arg
ENST00000443358.6:c.-10-183T>G	ENSP00000392451.2:n.-10-183T>G
ENST00000456665.6:c.-10-183T>G	ENSP00000409705.2:n.-10-183T>G
ENST00000538037.5:c.-72-11T>G	ENSP00000440326.2:n.-72-11T>G
ENST00000542167.2:c.-517+212T>G	ENSP00000438948.1:n.-517+212T>G
ENST00000544213.5:c.2T>G	ENSP00000445819.1:p.Met1Arg
ENST00000544662.1:n.102-183T>G
XM_011538769.1:c.2T>G	XP_011537071.1:p.Met1Arg
XM_011538769.2:c.2T>G	XP_011537071.1:p.Met1Arg
XR_001748872.1:n.457T>G
XR_944737.1:n.457T>G