Canonical Allele Identifier: CA10078646

Gene: PCNT

Linked Data

• dbSNP Id: rs759268541
• ExAC: 21:47773039 C / T
• gnomAD v2: 21-47773039-C-T
• gnomAD v3: 21-46353125-C-T
• gnomAD v4: 21-46353125-C-T
• MyVariant Identifiers: chr21:g.47773039C>T (hg19) ; chr21:g.46353125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46353125C>T , CM000683.2:g.46353125C>T	GRCh38
NC_000021.8:g.47773039C>T , CM000683.1:g.47773039C>T	GRCh37
NC_000021.7:g.46597467C>T	NCBI36
NG_008961.1:g.34004C>T
NG_008961.2:g.34004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.1366C>T	ENSP00000511987.1:p.Arg456Cys
ENST00000695525.1:n.1564C>T
ENST00000695526.1:c.1403C>T	ENSP00000511988.1:p.Ala468Val
ENST00000695558.1:c.1478C>T	ENSP00000512015.1:p.Ala493Val
ENST00000703224.1:c.*721C>T	ENSP00000515242.1:n.*721C>T
ENST00000359568.10:c.1478C>T MANE Select	ENSP00000352572.5:p.Ala493Val
ENST00000359568.9:c.1478C>T	ENSP00000352572.5:p.Ala493Val
ENST00000466474.5:n.717C>T
ENST00000480896.5:n.1747C>T
ENST00000483844.1:n.533C>T
NM_001315529.1:c.1124C>T	NP_001302458.1:p.Ala375Val
NM_006031.5:c.1478C>T	NP_006022.3:p.Ala493Val
XM_005261124.3:c.1478C>T	XP_005261181.1:p.Ala493Val
XM_011529593.1:c.1559C>T	XP_011527895.1:p.Ala520Val
XM_011529594.1:c.1559C>T	XP_011527896.1:p.Ala520Val
XM_005261124.5:c.1478C>T	XP_005261181.1:p.Ala493Val
XM_011529594.3:c.1559C>T	XP_011527896.1:p.Ala520Val
XM_017028362.2:c.1478C>T	XP_016883851.1:p.Ala493Val
XM_017028363.1:c.1124C>T	XP_016883852.1:p.Ala375Val
XM_024452082.1:c.362C>T	XP_024307850.1:p.Ala121Val
XM_024452083.1:c.-743C>T	XP_024307851.1:n.-743C>T
NM_006031.6:c.1478C>T MANE Select	NP_006022.3:p.Ala493Val
NM_001315529.2:c.1124C>T	NP_001302458.1:p.Ala375Val