Canonical Allele Identifier: CA339199758

Gene: PIGV

Linked Data

• gnomAD v4: 1-26794474-A-T
• MyVariant Identifiers: chr1:g.27120965A>T (hg19) ; chr1:g.26794474A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26794474A>T , CM000663.2:g.26794474A>T	GRCh38
NC_000001.10:g.27120965A>T , CM000663.1:g.27120965A>T	GRCh37
NC_000001.9:g.26993552A>T	NCBI36
NG_028133.1:g.11512A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686194.1:c.172+268A>T	ENSP00000509240.1:n.172+268A>T
ENST00000686325.1:c.440A>T	ENSP00000509836.1:p.Gln147Leu
ENST00000686422.1:n.1350A>T
ENST00000686655.1:c.-36-3089A>T	ENSP00000510382.1:n.-36-3089A>T
ENST00000687468.1:c.440A>T	ENSP00000510051.1:p.Gln147Leu
ENST00000688522.1:c.440A>T	ENSP00000508665.1:p.Gln147Leu
ENST00000688730.1:c.59A>T	ENSP00000508720.1:p.Gln20Leu
ENST00000689130.1:c.59A>T	ENSP00000509671.1:p.Gln20Leu
ENST00000691135.1:c.440A>T	ENSP00000510357.1:p.Gln147Leu
ENST00000691454.1:c.440A>T	ENSP00000509275.1:p.Gln147Leu
ENST00000693629.1:c.79-3089A>T	ENSP00000509280.1:n.79-3089A>T
ENST00000078527.9:c.440A>T	ENSP00000078527.4:p.Gln147Leu
ENST00000374145.6:c.440A>T	ENSP00000363260.1:p.Gln147Leu
ENST00000431541.6:c.440A>T	ENSP00000388425.2:p.Gln147Leu
ENST00000455364.2:c.440A>T	ENSP00000406080.2:p.Gln147Leu
ENST00000674202.1:c.440A>T MANE Select	ENSP00000501479.1:p.Gln147Leu
ENST00000674222.1:c.440A>T	ENSP00000501335.1:p.Gln147Leu
ENST00000674273.1:c.440A>T	ENSP00000501527.1:p.Gln147Leu
ENST00000674317.1:n.745A>T
ENST00000674335.1:c.59A>T	ENSP00000501446.1:p.Gln20Leu
ENST00000078527.8:c.440A>T	ENSP00000078527.4:p.Gln147Leu
ENST00000374145.5:c.440A>T	ENSP00000363260.1:p.Gln147Leu
ENST00000455364.1:c.440A>T	ENSP00000406080.1:p.Gln147Leu
ENST00000472757.5:c.172+268A>T	ENSP00000436884.1:n.172+268A>T
NM_001202554.1:c.440A>T	NP_001189483.1:p.Gln147Leu
NM_017837.3:c.440A>T	NP_060307.2:p.Gln147Leu
NM_001202554.2:c.440A>T	NP_001189483.1:p.Gln147Leu
NM_001374478.1:c.440A>T	NP_001361407.1:p.Gln147Leu
NM_001374480.1:c.440A>T	NP_001361409.1:p.Gln147Leu
NM_001374481.1:c.440A>T	NP_001361410.1:p.Gln147Leu
NM_001374482.1:c.440A>T	NP_001361411.1:p.Gln147Leu
NM_001374483.1:c.59A>T	NP_001361412.1:p.Gln20Leu
NM_001374484.1:c.172+268A>T	NP_001361413.1:n.172+268A>T
NM_001374485.1:c.172+268A>T	NP_001361414.1:n.172+268A>T
NM_001374486.1:c.79-3089A>T	NP_001361415.1:n.79-3089A>T
NM_017837.4:c.440A>T MANE Select	NP_060307.2:p.Gln147Leu
NR_164651.1:n.938A>T
NR_164652.1:n.615+201A>T