Canonical Allele Identifier: CA482842023

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2011808
• ClinVar RCV Id: RCV002838686
• gnomAD v4: 12-131941437-G-A
• MyVariant Identifiers: chr12:g.132425982G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941437G>A , CM000674.2:g.131941437G>A	GRCh38
NC_000012.11:g.132425982G>A , CM000674.1:g.132425982G>A	GRCh37
NC_000012.10:g.130991935G>A	NCBI36
NG_013039.1:g.17238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.690G>A MANE Select	ENSP00000365837.3:p.Gln230=
ENST00000322060.9:c.606G>A	ENSP00000324726.5:p.Gln202=
ENST00000376649.7:c.690G>A	ENSP00000365837.3:p.Gln230=
ENST00000443358.6:c.606G>A	ENSP00000392451.2:p.Gln202=
ENST00000535067.5:c.358-2102G>A	ENSP00000443969.1:n.358-2102G>A
ENST00000542167.2:c.531G>A	ENSP00000438948.1:p.Gln177=
ENST00000543754.1:n.511G>A
NM_001002019.2:c.606G>A	NP_001002019.1:p.Gln202=
NM_001002020.2:c.606G>A	NP_001002020.1:p.Gln202=
NM_025215.5:c.690G>A	NP_079491.2:p.Gln230=
XM_011538768.1:c.291G>A	XP_011537070.1:p.Gln97=
XM_011538768.3:c.291G>A	XP_011537070.1:p.Gln97=
XR_001748872.1:n.1145G>A
NM_001002019.3:c.606G>A	NP_001002019.1:p.Gln202=
NM_001002020.3:c.606G>A	NP_001002020.1:p.Gln202=
NM_025215.6:c.690G>A MANE Select	NP_079491.2:p.Gln230=