Canonical Allele Identifier: CA387298966

Gene: PUS1

Linked Data

• dbSNP Id: rs1352613195
• gnomAD v2: 12-132425981-A-C
• gnomAD v4: 12-131941436-A-C
• MyVariant Identifiers: chr12:g.132425981A>C (hg19) ; chr12:g.131941436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941436A>C , CM000674.2:g.131941436A>C	GRCh38
NC_000012.11:g.132425981A>C , CM000674.1:g.132425981A>C	GRCh37
NC_000012.10:g.130991934A>C	NCBI36
NG_013039.1:g.17237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.689A>C MANE Select	ENSP00000365837.3:p.Gln230Pro
ENST00000322060.9:c.605A>C	ENSP00000324726.5:p.Gln202Pro
ENST00000376649.7:c.689A>C	ENSP00000365837.3:p.Gln230Pro
ENST00000443358.6:c.605A>C	ENSP00000392451.2:p.Gln202Pro
ENST00000535067.5:c.358-2103A>C	ENSP00000443969.1:n.358-2103A>C
ENST00000542167.2:c.530A>C	ENSP00000438948.1:p.Gln177Pro
ENST00000543754.1:n.510A>C
NM_001002019.2:c.605A>C	NP_001002019.1:p.Gln202Pro
NM_001002020.2:c.605A>C	NP_001002020.1:p.Gln202Pro
NM_025215.5:c.689A>C	NP_079491.2:p.Gln230Pro
XM_011538768.1:c.290A>C	XP_011537070.1:p.Gln97Pro
XM_011538768.3:c.290A>C	XP_011537070.1:p.Gln97Pro
XR_001748872.1:n.1144A>C
NM_001002019.3:c.605A>C	NP_001002019.1:p.Gln202Pro
NM_001002020.3:c.605A>C	NP_001002020.1:p.Gln202Pro
NM_025215.6:c.689A>C MANE Select	NP_079491.2:p.Gln230Pro