Canonical Allele Identifier: CA387298781

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425893T>C (hg19) ; chr12:g.131941348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941348T>C , CM000674.2:g.131941348T>C	GRCh38
NC_000012.11:g.132425893T>C , CM000674.1:g.132425893T>C	GRCh37
NC_000012.10:g.130991846T>C	NCBI36
NG_013039.1:g.17149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.601T>C MANE Select	ENSP00000365837.3:p.Tyr201His
ENST00000322060.9:c.517T>C	ENSP00000324726.5:p.Tyr173His
ENST00000376649.7:c.601T>C	ENSP00000365837.3:p.Tyr201His
ENST00000443358.6:c.517T>C	ENSP00000392451.2:p.Tyr173His
ENST00000535067.5:c.358-2191T>C	ENSP00000443969.1:n.358-2191T>C
ENST00000537484.1:c.526T>C	ENSP00000440179.1:p.Tyr176His
ENST00000542167.2:c.442T>C	ENSP00000438948.1:p.Tyr148His
ENST00000543754.1:n.422T>C
NM_001002019.2:c.517T>C	NP_001002019.1:p.Tyr173His
NM_001002020.2:c.517T>C	NP_001002020.1:p.Tyr173His
NM_025215.5:c.601T>C	NP_079491.2:p.Tyr201His
XM_011538768.1:c.202T>C	XP_011537070.1:p.Tyr68His
XM_011538768.3:c.202T>C	XP_011537070.1:p.Tyr68His
XR_001748872.1:n.1056T>C
NM_001002019.3:c.517T>C	NP_001002019.1:p.Tyr173His
NM_001002020.3:c.517T>C	NP_001002020.1:p.Tyr173His
NM_025215.6:c.601T>C MANE Select	NP_079491.2:p.Tyr201His