Canonical Allele Identifier: CA482842000

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132425970C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941425C>A , CM000674.2:g.131941425C>A	GRCh38
NC_000012.11:g.132425970C>A , CM000674.1:g.132425970C>A	GRCh37
NC_000012.10:g.130991923C>A	NCBI36
NG_013039.1:g.17226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.678C>A MANE Select	ENSP00000365837.3:p.Ala226=
ENST00000322060.9:c.594C>A	ENSP00000324726.5:p.Ala198=
ENST00000376649.7:c.678C>A	ENSP00000365837.3:p.Ala226=
ENST00000443358.6:c.594C>A	ENSP00000392451.2:p.Ala198=
ENST00000535067.5:c.358-2114C>A	ENSP00000443969.1:n.358-2114C>A
ENST00000542167.2:c.519C>A	ENSP00000438948.1:p.Ala173=
ENST00000543754.1:n.499C>A
NM_001002019.2:c.594C>A	NP_001002019.1:p.Ala198=
NM_001002020.2:c.594C>A	NP_001002020.1:p.Ala198=
NM_025215.5:c.678C>A	NP_079491.2:p.Ala226=
XM_011538768.1:c.279C>A	XP_011537070.1:p.Ala93=
XM_011538768.3:c.279C>A	XP_011537070.1:p.Ala93=
XR_001748872.1:n.1133C>A
NM_001002019.3:c.594C>A	NP_001002019.1:p.Ala198=
NM_001002020.3:c.594C>A	NP_001002020.1:p.Ala198=
NM_025215.6:c.678C>A MANE Select	NP_079491.2:p.Ala226=