Canonical Allele Identifier: CA114904
Gene: PIGV HGNC NCBI

Linked Data

ClinVar Variation Id: 1286
ClinVar RCV Id: RCV000001349
dbSNP Id: rs267606952
MyVariant Identifiers: chr1:g.27121291C>A (hg19) chr1:g.26794800C>A (hg38)
PubMed: PMID:17351347 PMID:20802478
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26794800C>A , CM000663.2:g.26794800C>A GRCh38
NC_000001.10:g.27121291C>A , CM000663.1:g.27121291C>A GRCh37
NC_000001.9:g.26993878C>A NCBI36
NG_028133.1:g.11838C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000686194.1:c.173-34C>A ENSP00000509240.1:n.173-34C>A
ENST00000686325.1:c.766C>A ENSP00000509836.1:p.Gln256Lys
ENST00000686422.1:n.1676C>A
ENST00000686655.1:c.-36-2763C>A ENSP00000510382.1:n.-36-2763C>A
ENST00000687468.1:c.766C>A ENSP00000510051.1:p.Gln256Lys
ENST00000688522.1:c.766C>A ENSP00000508665.1:p.Gln256Lys
ENST00000688730.1:c.385C>A ENSP00000508720.1:p.Gln129Lys
ENST00000689130.1:c.385C>A ENSP00000509671.1:p.Gln129Lys
ENST00000691135.1:c.766C>A ENSP00000510357.1:p.Gln256Lys
ENST00000691454.1:c.766C>A ENSP00000509275.1:p.Gln256Lys
ENST00000693629.1:c.79-2763C>A ENSP00000509280.1:n.79-2763C>A
ENST00000078527.9:c.766C>A ENSP00000078527.4:p.Gln256Lys
ENST00000374145.6:c.766C>A ENSP00000363260.1:p.Gln256Lys
ENST00000431541.6:c.766C>A ENSP00000388425.2:p.Gln256Lys
ENST00000455364.2:c.766C>A ENSP00000406080.2:p.Gln256Lys
ENST00000674202.1:c.766C>A MANE Select ENSP00000501479.1:p.Gln256Lys
ENST00000674222.1:c.766C>A ENSP00000501335.1:p.Gln256Lys
ENST00000674273.1:c.766C>A ENSP00000501527.1:p.Gln256Lys
ENST00000674317.1:n.1071C>A
ENST00000674335.1:c.385C>A ENSP00000501446.1:p.Gln129Lys
ENST00000078527.8:c.766C>A ENSP00000078527.4:p.Gln256Lys
ENST00000374145.5:c.766C>A ENSP00000363260.1:p.Gln256Lys
ENST00000472757.5:c.173-3C>A ENSP00000436884.1:n.173-3C>A
NM_001202554.1:c.766C>A NP_001189483.1:p.Gln256Lys
NM_017837.3:c.766C>A NP_060307.2:p.Gln256Lys
NM_001202554.2:c.766C>A NP_001189483.1:p.Gln256Lys
NM_001374478.1:c.766C>A NP_001361407.1:p.Gln256Lys
NM_001374480.1:c.766C>A NP_001361409.1:p.Gln256Lys
NM_001374481.1:c.766C>A NP_001361410.1:p.Gln256Lys
NM_001374482.1:c.766C>A NP_001361411.1:p.Gln256Lys
NM_001374483.1:c.385C>A NP_001361412.1:p.Gln129Lys
NM_001374484.1:c.173-34C>A NP_001361413.1:n.173-34C>A
NM_001374485.1:c.173-34C>A NP_001361414.1:n.173-34C>A
NM_001374486.1:c.79-2763C>A NP_001361415.1:n.79-2763C>A
NM_017837.4:c.766C>A MANE Select NP_060307.2:p.Gln256Lys
NR_164651.1:n.1264C>A
NR_164652.1:n.615+527C>A
Search 100 bp 5'
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