Canonical Allele Identifier: CA387299033

Gene: PUS1

Linked Data

• MyVariant Identifiers: chr12:g.132426012G>T (hg19) ; chr12:g.131941467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941467G>T , CM000674.2:g.131941467G>T	GRCh38
NC_000012.11:g.132426012G>T , CM000674.1:g.132426012G>T	GRCh37
NC_000012.10:g.130991965G>T	NCBI36
NG_013039.1:g.17268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.720G>T MANE Select	ENSP00000365837.3:p.Lys240Asn
ENST00000322060.9:c.636G>T	ENSP00000324726.5:p.Lys212Asn
ENST00000376649.7:c.720G>T	ENSP00000365837.3:p.Lys240Asn
ENST00000443358.6:c.636G>T	ENSP00000392451.2:p.Lys212Asn
ENST00000535067.5:c.358-2072G>T	ENSP00000443969.1:n.358-2072G>T
ENST00000542167.2:c.561G>T	ENSP00000438948.1:p.Lys187Asn
ENST00000543754.1:n.541G>T
NM_001002019.2:c.636G>T	NP_001002019.1:p.Lys212Asn
NM_001002020.2:c.636G>T	NP_001002020.1:p.Lys212Asn
NM_025215.5:c.720G>T	NP_079491.2:p.Lys240Asn
XM_011538768.1:c.321G>T	XP_011537070.1:p.Lys107Asn
XM_011538768.3:c.321G>T	XP_011537070.1:p.Lys107Asn
XR_001748872.1:n.1175G>T
NM_001002019.3:c.636G>T	NP_001002019.1:p.Lys212Asn
NM_001002020.3:c.636G>T	NP_001002020.1:p.Lys212Asn
NM_025215.6:c.720G>T MANE Select	NP_079491.2:p.Lys240Asn