Canonical Allele Identifier: CA410556772

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831765T>A (hg19) ; chr21:g.46411851T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411851T>A , CM000683.2:g.46411851T>A	GRCh38
NC_000021.8:g.47831765T>A , CM000683.1:g.47831765T>A	GRCh37
NC_000021.7:g.46656193T>A	NCBI36
NG_008961.1:g.92730T>A
NG_008961.2:g.92730T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.123T>A
ENST00000695558.1:c.5811T>A	ENSP00000512015.1:p.Cys1937Ter
ENST00000703224.1:c.*5021T>A	ENSP00000515242.1:n.*5021T>A
ENST00000359568.10:c.5778T>A MANE Select	ENSP00000352572.5:p.Cys1926Ter
ENST00000359568.9:c.5778T>A	ENSP00000352572.5:p.Cys1926Ter
ENST00000480896.5:n.6047T>A
NM_001315529.1:c.5424T>A	NP_001302458.1:p.Cys1808Ter
NM_006031.5:c.5778T>A	NP_006022.3:p.Cys1926Ter
XM_005261124.3:c.5811T>A	XP_005261181.1:p.Cys1937Ter
XM_011529593.1:c.5889T>A	XP_011527895.1:p.Cys1963Ter
XM_011529594.1:c.5859T>A	XP_011527896.1:p.Cys1953Ter
XM_005261124.5:c.5811T>A	XP_005261181.1:p.Cys1937Ter
XM_011529594.3:c.5859T>A	XP_011527896.1:p.Cys1953Ter
XM_017028362.2:c.5778T>A	XP_016883851.1:p.Cys1926Ter
XM_017028363.1:c.5457T>A	XP_016883852.1:p.Cys1819Ter
XM_024452082.1:c.4695T>A	XP_024307850.1:p.Cys1565Ter
XM_024452083.1:c.3591T>A	XP_024307851.1:p.Cys1197Ter
NM_006031.6:c.5778T>A MANE Select	NP_006022.3:p.Cys1926Ter
NM_001315529.2:c.5424T>A	NP_001302458.1:p.Cys1808Ter