Canonical Allele Identifier: CA410570026

Gene: PCNT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1518C>G	ENSP00000511987.1:n.*1518C>G
ENST00000695525.1:n.3108C>G
ENST00000695558.1:c.3022C>G	ENSP00000512015.1:p.His1008Asp
ENST00000703224.1:c.*2265C>G	ENSP00000515242.1:n.*2265C>G
ENST00000359568.10:c.3022C>G MANE Select	ENSP00000352572.5:p.His1008Asp
ENST00000359568.9:c.3022C>G	ENSP00000352572.5:p.His1008Asp
ENST00000480896.5:n.3291C>G
NM_001315529.1:c.2668C>G	NP_001302458.1:p.His890Asp
NM_006031.5:c.3022C>G	NP_006022.3:p.His1008Asp
XM_005261124.3:c.3022C>G	XP_005261181.1:p.His1008Asp
XM_011529593.1:c.3103C>G	XP_011527895.1:p.His1035Asp
XM_011529594.1:c.3103C>G	XP_011527896.1:p.His1035Asp
XM_005261124.5:c.3022C>G	XP_005261181.1:p.His1008Asp
XM_011529594.3:c.3103C>G	XP_011527896.1:p.His1035Asp
XM_017028362.2:c.3022C>G	XP_016883851.1:p.His1008Asp
XM_017028363.1:c.2668C>G	XP_016883852.1:p.His890Asp
XM_024452082.1:c.1906C>G	XP_024307850.1:p.His636Asp
XM_024452083.1:c.802C>G	XP_024307851.1:p.His268Asp
NM_006031.6:c.3022C>G MANE Select	NP_006022.3:p.His1008Asp
NM_001315529.2:c.2668C>G	NP_001302458.1:p.His890Asp