Canonical Allele Identifier: CA6884213

Gene: PUS1

Linked Data

• dbSNP Id: rs774127499
• ExAC: 12:132425956 T / C
• gnomAD v2: 12-132425956-T-C
• gnomAD v4: 12-131941411-T-C
• MyVariant Identifiers: chr12:g.132425956T>C (hg19) ; chr12:g.131941411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941411T>C , CM000674.2:g.131941411T>C	GRCh38
NC_000012.11:g.132425956T>C , CM000674.1:g.132425956T>C	GRCh37
NC_000012.10:g.130991909T>C	NCBI36
NG_013039.1:g.17212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.664T>C MANE Select	ENSP00000365837.3:p.Tyr222His
ENST00000322060.9:c.580T>C	ENSP00000324726.5:p.Tyr194His
ENST00000376649.7:c.664T>C	ENSP00000365837.3:p.Tyr222His
ENST00000443358.6:c.580T>C	ENSP00000392451.2:p.Tyr194His
ENST00000535067.5:c.358-2128T>C	ENSP00000443969.1:n.358-2128T>C
ENST00000537484.1:c.589T>C	ENSP00000440179.1:p.Tyr197His
ENST00000542167.2:c.505T>C	ENSP00000438948.1:p.Tyr169His
ENST00000543754.1:n.485T>C
NM_001002019.2:c.580T>C	NP_001002019.1:p.Tyr194His
NM_001002020.2:c.580T>C	NP_001002020.1:p.Tyr194His
NM_025215.5:c.664T>C	NP_079491.2:p.Tyr222His
XM_011538768.1:c.265T>C	XP_011537070.1:p.Tyr89His
XM_011538768.3:c.265T>C	XP_011537070.1:p.Tyr89His
XR_001748872.1:n.1119T>C
NM_001002019.3:c.580T>C	NP_001002019.1:p.Tyr194His
NM_001002020.3:c.580T>C	NP_001002020.1:p.Tyr194His
NM_025215.6:c.664T>C MANE Select	NP_079491.2:p.Tyr222His