Canonical Allele Identifier: CA512734492

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786985C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367070C>T , CM000683.2:g.46367070C>T	GRCh38
NC_000021.8:g.47786985C>T , CM000683.1:g.47786985C>T	GRCh37
NC_000021.7:g.46611413C>T	NCBI36
NG_008961.1:g.47950C>T
NG_008961.2:g.47949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1592C>T	ENSP00000511987.1:n.*1592C>T
ENST00000695525.1:n.3182C>T
ENST00000695558.1:c.3096C>T	ENSP00000512015.1:p.Asp1032=
ENST00000703224.1:c.*2339C>T	ENSP00000515242.1:n.*2339C>T
ENST00000359568.10:c.3096C>T MANE Select	ENSP00000352572.5:p.Asp1032=
ENST00000359568.9:c.3096C>T	ENSP00000352572.5:p.Asp1032=
ENST00000480896.5:n.3365C>T
NM_001315529.1:c.2742C>T	NP_001302458.1:p.Asp914=
NM_006031.5:c.3096C>T	NP_006022.3:p.Asp1032=
XM_005261124.3:c.3096C>T	XP_005261181.1:p.Asp1032=
XM_011529593.1:c.3177C>T	XP_011527895.1:p.Asp1059=
XM_011529594.1:c.3177C>T	XP_011527896.1:p.Asp1059=
XM_005261124.5:c.3096C>T	XP_005261181.1:p.Asp1032=
XM_011529594.3:c.3177C>T	XP_011527896.1:p.Asp1059=
XM_017028362.2:c.3096C>T	XP_016883851.1:p.Asp1032=
XM_017028363.1:c.2742C>T	XP_016883852.1:p.Asp914=
XM_024452082.1:c.1980C>T	XP_024307850.1:p.Asp660=
XM_024452083.1:c.876C>T	XP_024307851.1:p.Asp292=
NM_006031.6:c.3096C>T MANE Select	NP_006022.3:p.Asp1032=
NM_001315529.2:c.2742C>T	NP_001302458.1:p.Asp914=