Canonical Allele Identifier: CA387299048

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426020A>T (hg19) ; chr12:g.131941475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941475A>T , CM000674.2:g.131941475A>T	GRCh38
NC_000012.11:g.132426020A>T , CM000674.1:g.132426020A>T	GRCh37
NC_000012.10:g.130991973A>T	NCBI36
NG_013039.1:g.17276A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.728A>T MANE Select	ENSP00000365837.3:p.His243Leu
ENST00000322060.9:c.644A>T	ENSP00000324726.5:p.His215Leu
ENST00000376649.7:c.728A>T	ENSP00000365837.3:p.His243Leu
ENST00000443358.6:c.644A>T	ENSP00000392451.2:p.His215Leu
ENST00000535067.5:c.358-2064A>T	ENSP00000443969.1:n.358-2064A>T
ENST00000542167.2:c.569A>T	ENSP00000438948.1:p.His190Leu
ENST00000543754.1:n.549A>T
NM_001002019.2:c.644A>T	NP_001002019.1:p.His215Leu
NM_001002020.2:c.644A>T	NP_001002020.1:p.His215Leu
NM_025215.5:c.728A>T	NP_079491.2:p.His243Leu
XM_011538768.1:c.329A>T	XP_011537070.1:p.His110Leu
XM_011538768.3:c.329A>T	XP_011537070.1:p.His110Leu
XR_001748872.1:n.1183A>T
NM_001002019.3:c.644A>T	NP_001002019.1:p.His215Leu
NM_001002020.3:c.644A>T	NP_001002020.1:p.His215Leu
NM_025215.6:c.728A>T MANE Select	NP_079491.2:p.His243Leu