Canonical Allele Identifier: CA387298667

Gene: PUS1

Linked Data

• dbSNP Id: rs1566147616
• MyVariant Identifiers: chr12:g.132425839C>A (hg19) ; chr12:g.131941294C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941294C>A , CM000674.2:g.131941294C>A	GRCh38
NC_000012.11:g.132425839C>A , CM000674.1:g.132425839C>A	GRCh37
NC_000012.10:g.130991792C>A	NCBI36
NG_013039.1:g.17095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.547C>A MANE Select	ENSP00000365837.3:p.Leu183Met
ENST00000322060.9:c.463C>A	ENSP00000324726.5:p.Leu155Met
ENST00000376649.7:c.547C>A	ENSP00000365837.3:p.Leu183Met
ENST00000443358.6:c.463C>A	ENSP00000392451.2:p.Leu155Met
ENST00000535067.5:c.358-2245C>A	ENSP00000443969.1:n.358-2245C>A
ENST00000537484.1:c.472C>A	ENSP00000440179.1:p.Leu158Met
ENST00000542167.2:c.388C>A	ENSP00000438948.1:p.Leu130Met
ENST00000543754.1:n.368C>A
NM_001002019.2:c.463C>A	NP_001002019.1:p.Leu155Met
NM_001002020.2:c.463C>A	NP_001002020.1:p.Leu155Met
NM_025215.5:c.547C>A	NP_079491.2:p.Leu183Met
XM_011538768.1:c.148C>A	XP_011537070.1:p.Leu50Met
XM_011538768.3:c.148C>A	XP_011537070.1:p.Leu50Met
XR_001748872.1:n.1002C>A
NM_001002019.3:c.463C>A	NP_001002019.1:p.Leu155Met
NM_001002020.3:c.463C>A	NP_001002020.1:p.Leu155Met
NM_025215.6:c.547C>A MANE Select	NP_079491.2:p.Leu183Met