Canonical Allele Identifier: CA513174308

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831654C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411740C>A , CM000683.2:g.46411740C>A	GRCh38
NC_000021.8:g.47831654C>A , CM000683.1:g.47831654C>A	GRCh37
NC_000021.7:g.46656082C>A	NCBI36
NG_008961.1:g.92619C>A
NG_008961.2:g.92619C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.12C>A
ENST00000695558.1:c.5700C>A	ENSP00000512015.1:p.Ala1900=
ENST00000703224.1:c.*4910C>A	ENSP00000515242.1:n.*4910C>A
ENST00000359568.10:c.5667C>A MANE Select	ENSP00000352572.5:p.Ala1889=
ENST00000359568.9:c.5667C>A	ENSP00000352572.5:p.Ala1889=
ENST00000480896.5:n.5936C>A
NM_001315529.1:c.5313C>A	NP_001302458.1:p.Ala1771=
NM_006031.5:c.5667C>A	NP_006022.3:p.Ala1889=
XM_005261124.3:c.5700C>A	XP_005261181.1:p.Ala1900=
XM_011529593.1:c.5778C>A	XP_011527895.1:p.Ala1926=
XM_011529594.1:c.5748C>A	XP_011527896.1:p.Ala1916=
XM_005261124.5:c.5700C>A	XP_005261181.1:p.Ala1900=
XM_011529594.3:c.5748C>A	XP_011527896.1:p.Ala1916=
XM_017028362.2:c.5667C>A	XP_016883851.1:p.Ala1889=
XM_017028363.1:c.5346C>A	XP_016883852.1:p.Ala1782=
XM_024452082.1:c.4584C>A	XP_024307850.1:p.Ala1528=
XM_024452083.1:c.3480C>A	XP_024307851.1:p.Ala1160=
NM_006031.6:c.5667C>A MANE Select	NP_006022.3:p.Ala1889=
NM_001315529.2:c.5313C>A	NP_001302458.1:p.Ala1771=