Canonical Allele Identifier: CA387299098
Gene: PUS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131941496C>G , CM000674.2:g.131941496C>G GRCh38
NC_000012.11:g.132426041C>G , CM000674.1:g.132426041C>G GRCh37
NC_000012.10:g.130991994C>G NCBI36
NG_013039.1:g.17297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376649.8:c.749C>G MANE Select ENSP00000365837.3:p.Ser250Trp
ENST00000322060.9:c.665C>G ENSP00000324726.5:p.Ser222Trp
ENST00000376649.7:c.749C>G ENSP00000365837.3:p.Ser250Trp
ENST00000443358.6:c.665C>G ENSP00000392451.2:p.Ser222Trp
ENST00000535067.5:c.358-2043C>G ENSP00000443969.1:n.358-2043C>G
ENST00000542167.2:c.590C>G ENSP00000438948.1:p.Ser197Trp
ENST00000543754.1:n.570C>G
NM_001002019.2:c.665C>G NP_001002019.1:p.Ser222Trp
NM_001002020.2:c.665C>G NP_001002020.1:p.Ser222Trp
NM_025215.5:c.749C>G NP_079491.2:p.Ser250Trp
XM_011538768.1:c.350C>G XP_011537070.1:p.Ser117Trp
XM_011538768.3:c.350C>G XP_011537070.1:p.Ser117Trp
XR_001748872.1:n.1204C>G
NM_001002019.3:c.665C>G NP_001002019.1:p.Ser222Trp
NM_001002020.3:c.665C>G NP_001002020.1:p.Ser222Trp
NM_025215.6:c.749C>G MANE Select NP_079491.2:p.Ser250Trp