Canonical Allele Identifier: CA410570031

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786911C>A (hg19) ; chr21:g.46366996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366996C>A , CM000683.2:g.46366996C>A	GRCh38
NC_000021.8:g.47786911C>A , CM000683.1:g.47786911C>A	GRCh37
NC_000021.7:g.46611339C>A	NCBI36
NG_008961.1:g.47876C>A
NG_008961.2:g.47875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1518C>A	ENSP00000511987.1:n.*1518C>A
ENST00000695525.1:n.3108C>A
ENST00000695558.1:c.3022C>A	ENSP00000512015.1:p.His1008Asn
ENST00000703224.1:c.*2265C>A	ENSP00000515242.1:n.*2265C>A
ENST00000359568.10:c.3022C>A MANE Select	ENSP00000352572.5:p.His1008Asn
ENST00000359568.9:c.3022C>A	ENSP00000352572.5:p.His1008Asn
ENST00000480896.5:n.3291C>A
NM_001315529.1:c.2668C>A	NP_001302458.1:p.His890Asn
NM_006031.5:c.3022C>A	NP_006022.3:p.His1008Asn
XM_005261124.3:c.3022C>A	XP_005261181.1:p.His1008Asn
XM_011529593.1:c.3103C>A	XP_011527895.1:p.His1035Asn
XM_011529594.1:c.3103C>A	XP_011527896.1:p.His1035Asn
XM_005261124.5:c.3022C>A	XP_005261181.1:p.His1008Asn
XM_011529594.3:c.3103C>A	XP_011527896.1:p.His1035Asn
XM_017028362.2:c.3022C>A	XP_016883851.1:p.His1008Asn
XM_017028363.1:c.2668C>A	XP_016883852.1:p.His890Asn
XM_024452082.1:c.1906C>A	XP_024307850.1:p.His636Asn
XM_024452083.1:c.802C>A	XP_024307851.1:p.His268Asn
NM_006031.6:c.3022C>A MANE Select	NP_006022.3:p.His1008Asn
NM_001315529.2:c.2668C>A	NP_001302458.1:p.His890Asn