Canonical Allele Identifier: CA387299142

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941516-C-T
• COSMIC: COSM430754
• MyVariant Identifiers: chr12:g.132426061C>T (hg19) ; chr12:g.131941516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941516C>T , CM000674.2:g.131941516C>T	GRCh38
NC_000012.11:g.132426061C>T , CM000674.1:g.132426061C>T	GRCh37
NC_000012.10:g.130992014C>T	NCBI36
NG_013039.1:g.17317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.769C>T MANE Select	ENSP00000365837.3:p.Pro257Ser
ENST00000322060.9:c.685C>T	ENSP00000324726.5:p.Pro229Ser
ENST00000376649.7:c.769C>T	ENSP00000365837.3:p.Pro257Ser
ENST00000443358.6:c.685C>T	ENSP00000392451.2:p.Pro229Ser
ENST00000535067.5:c.358-2023C>T	ENSP00000443969.1:n.358-2023C>T
ENST00000542167.2:c.610C>T	ENSP00000438948.1:p.Pro204Ser
ENST00000543754.1:n.590C>T
NM_001002019.2:c.685C>T	NP_001002019.1:p.Pro229Ser
NM_001002020.2:c.685C>T	NP_001002020.1:p.Pro229Ser
NM_025215.5:c.769C>T	NP_079491.2:p.Pro257Ser
XM_011538768.1:c.370C>T	XP_011537070.1:p.Pro124Ser
XM_011538768.3:c.370C>T	XP_011537070.1:p.Pro124Ser
XR_001748872.1:n.1224C>T
NM_001002019.3:c.685C>T	NP_001002019.1:p.Pro229Ser
NM_001002020.3:c.685C>T	NP_001002020.1:p.Pro229Ser
NM_025215.6:c.769C>T MANE Select	NP_079491.2:p.Pro257Ser