Canonical Allele Identifier: CA339197326

Gene: PIGV

Linked Data

• dbSNP Id: rs1321002098
• gnomAD v2: 1-27117326-C-T
• gnomAD v4: 1-26790835-C-T
• MyVariant Identifiers: chr1:g.27117326C>T (hg19) ; chr1:g.26790835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26790835C>T , CM000663.2:g.26790835C>T	GRCh38
NC_000001.10:g.27117326C>T , CM000663.1:g.27117326C>T	GRCh37
NC_000001.9:g.26989913C>T	NCBI36
NG_028133.1:g.7873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686194.1:c.20C>T	ENSP00000509240.1:p.Ser7Phe
ENST00000686325.1:c.20C>T	ENSP00000509836.1:p.Ser7Phe
ENST00000686422.1:n.930C>T
ENST00000686655.1:c.-37+2846C>T	ENSP00000510382.1:n.-37+2846C>T
ENST00000687468.1:c.20C>T	ENSP00000510051.1:p.Ser7Phe
ENST00000688522.1:c.20C>T	ENSP00000508665.1:p.Ser7Phe
ENST00000688730.1:c.-304+2846C>T	ENSP00000508720.1:n.-304+2846C>T
ENST00000689130.1:c.-304+2846C>T	ENSP00000509671.1:n.-304+2846C>T
ENST00000691135.1:c.20C>T	ENSP00000510357.1:p.Ser7Phe
ENST00000691454.1:c.20C>T	ENSP00000509275.1:p.Ser7Phe
ENST00000693629.1:c.20C>T	ENSP00000509280.1:p.Ser7Phe
ENST00000078527.9:c.20C>T	ENSP00000078527.4:p.Ser7Phe
ENST00000374145.6:c.20C>T	ENSP00000363260.1:p.Ser7Phe
ENST00000431541.6:c.20C>T	ENSP00000388425.2:p.Ser7Phe
ENST00000455364.2:c.20C>T	ENSP00000406080.2:p.Ser7Phe
ENST00000674202.1:c.20C>T MANE Select	ENSP00000501479.1:p.Ser7Phe
ENST00000674222.1:c.20C>T	ENSP00000501335.1:p.Ser7Phe
ENST00000674273.1:c.20C>T	ENSP00000501527.1:p.Ser7Phe
ENST00000674317.1:n.325C>T
ENST00000674335.1:c.-304+3029C>T	ENSP00000501446.1:n.-304+3029C>T
ENST00000078527.8:c.20C>T	ENSP00000078527.4:p.Ser7Phe
ENST00000374145.5:c.20C>T	ENSP00000363260.1:p.Ser7Phe
ENST00000430292.5:c.20C>T	ENSP00000399067.1:p.Ser7Phe
ENST00000431541.5:c.20C>T	ENSP00000388425.1:p.Ser7Phe
ENST00000455364.1:c.20C>T	ENSP00000406080.1:p.Ser7Phe
ENST00000472757.5:c.20C>T	ENSP00000436884.1:p.Ser7Phe
NM_001202554.1:c.20C>T	NP_001189483.1:p.Ser7Phe
NM_017837.3:c.20C>T	NP_060307.2:p.Ser7Phe
NM_001202554.2:c.20C>T	NP_001189483.1:p.Ser7Phe
NM_001374478.1:c.20C>T	NP_001361407.1:p.Ser7Phe
NM_001374480.1:c.20C>T	NP_001361409.1:p.Ser7Phe
NM_001374481.1:c.20C>T	NP_001361410.1:p.Ser7Phe
NM_001374482.1:c.20C>T	NP_001361411.1:p.Ser7Phe
NM_001374483.1:c.-304+3029C>T	NP_001361412.1:n.-304+3029C>T
NM_001374484.1:c.20C>T	NP_001361413.1:p.Ser7Phe
NM_001374485.1:c.20C>T	NP_001361414.1:p.Ser7Phe
NM_001374486.1:c.20C>T	NP_001361415.1:p.Ser7Phe
NM_017837.4:c.20C>T MANE Select	NP_060307.2:p.Ser7Phe
NR_164651.1:n.518C>T
NR_164652.1:n.396C>T