Canonical Allele Identifier: CA387298657

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425835A>C (hg19) ; chr12:g.131941290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941290A>C , CM000674.2:g.131941290A>C	GRCh38
NC_000012.11:g.132425835A>C , CM000674.1:g.132425835A>C	GRCh37
NC_000012.10:g.130991788A>C	NCBI36
NG_013039.1:g.17091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-2A>C MANE Select	ENSP00000365837.3:n.545-2A>C
ENST00000322060.9:c.461-2A>C	ENSP00000324726.5:n.461-2A>C
ENST00000376649.7:c.545-2A>C	ENSP00000365837.3:n.545-2A>C
ENST00000443358.6:c.461-2A>C	ENSP00000392451.2:n.461-2A>C
ENST00000535067.5:c.358-2249A>C	ENSP00000443969.1:n.358-2249A>C
ENST00000537484.1:c.470-2A>C	ENSP00000440179.1:n.470-2A>C
ENST00000542167.2:c.386-2A>C	ENSP00000438948.1:n.386-2A>C
ENST00000543754.1:n.364A>C
NM_001002019.2:c.461-2A>C	NP_001002019.1:n.461-2A>C
NM_001002020.2:c.461-2A>C	NP_001002020.1:n.461-2A>C
NM_025215.5:c.545-2A>C	NP_079491.2:n.545-2A>C
XM_011538768.1:c.146-2A>C	XP_011537070.1:n.146-2A>C
XM_011538768.3:c.146-2A>C	XP_011537070.1:n.146-2A>C
XR_001748872.1:n.1000-2A>C
NM_001002019.3:c.461-2A>C	NP_001002019.1:n.461-2A>C
NM_001002020.3:c.461-2A>C	NP_001002020.1:n.461-2A>C
NM_025215.6:c.545-2A>C MANE Select	NP_079491.2:n.545-2A>C