Canonical Allele Identifier: CA387299130

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941512-G-C
• MyVariant Identifiers: chr12:g.132426057G>C (hg19) ; chr12:g.131941512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941512G>C , CM000674.2:g.131941512G>C	GRCh38
NC_000012.11:g.132426057G>C , CM000674.1:g.132426057G>C	GRCh37
NC_000012.10:g.130992010G>C	NCBI36
NG_013039.1:g.17313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.765G>C MANE Select	ENSP00000365837.3:p.Gln255His
ENST00000322060.9:c.681G>C	ENSP00000324726.5:p.Gln227His
ENST00000376649.7:c.765G>C	ENSP00000365837.3:p.Gln255His
ENST00000443358.6:c.681G>C	ENSP00000392451.2:p.Gln227His
ENST00000535067.5:c.358-2027G>C	ENSP00000443969.1:n.358-2027G>C
ENST00000542167.2:c.606G>C	ENSP00000438948.1:p.Gln202His
ENST00000543754.1:n.586G>C
NM_001002019.2:c.681G>C	NP_001002019.1:p.Gln227His
NM_001002020.2:c.681G>C	NP_001002020.1:p.Gln227His
NM_025215.5:c.765G>C	NP_079491.2:p.Gln255His
XM_011538768.1:c.366G>C	XP_011537070.1:p.Gln122His
XM_011538768.3:c.366G>C	XP_011537070.1:p.Gln122His
XR_001748872.1:n.1220G>C
NM_001002019.3:c.681G>C	NP_001002019.1:p.Gln227His
NM_001002020.3:c.681G>C	NP_001002020.1:p.Gln227His
NM_025215.6:c.765G>C MANE Select	NP_079491.2:p.Gln255His