Canonical Allele Identifier: CA376132737

Gene: PIP4K2A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.22550699T>G , CM000672.2:g.22550699T>G	GRCh38
NC_000010.10:g.22839628T>G , CM000672.1:g.22839628T>G	GRCh37
NC_000010.9:g.22879634T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005028.5:c.752A>C MANE Select	NP_005019.2:p.Asn251Thr
ENST00000376573.9:c.752A>C MANE Select	ENSP00000365757.4:p.Asn251Thr
NM_001330062.1:c.575A>C	NP_001316991.1:p.Asn192Thr
NM_001330062.2:c.575A>C	NP_001316991.1:p.Asn192Thr
NM_005028.4:c.752A>C	NP_005019.2:p.Asn251Thr
ENST00000323883.11:c.332A>C	ENSP00000326294.7:p.Asn111Thr
ENST00000376573.8:c.752A>C	ENSP00000365757.4:p.Asn251Thr
ENST00000545335.5:c.575A>C	ENSP00000442098.1:p.Asn192Thr
ENST00000604912.1:c.290A>C	ENSP00000473858.1:p.Asn97Thr
XM_006717450.2:c.599A>C	XP_006717513.1:p.Asn200Thr
XM_011519494.1:c.713A>C	XP_011517796.1:p.Asn238Thr
XM_011519495.1:c.665A>C	XP_011517797.1:p.Asn222Thr
XM_011519496.1:c.575A>C	XP_011517798.1:p.Asn192Thr
XM_017016330.1:c.575A>C	XP_016871819.1:p.Asn192Thr
XM_017016331.1:c.575A>C	XP_016871820.1:p.Asn192Thr
XM_017016332.1:c.422A>C	XP_016871821.1:p.Asn141Thr