Canonical Allele Identifier: CA410557379

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411943-C-T
• MyVariant Identifiers: chr21:g.47831857C>T (hg19) ; chr21:g.46411943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411943C>T , CM000683.2:g.46411943C>T	GRCh38
NC_000021.8:g.47831857C>T , CM000683.1:g.47831857C>T	GRCh37
NC_000021.7:g.46656285C>T	NCBI36
NG_008961.1:g.92822C>T
NG_008961.2:g.92822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.215C>T
ENST00000695528.1:c.44C>T	ENSP00000511990.1:p.Ala15Val
ENST00000695529.1:n.44C>T
ENST00000695558.1:c.5903C>T	ENSP00000512015.1:p.Ala1968Val
ENST00000703224.1:c.*5113C>T	ENSP00000515242.1:n.*5113C>T
ENST00000359568.10:c.5870C>T MANE Select	ENSP00000352572.5:p.Ala1957Val
ENST00000359568.9:c.5870C>T	ENSP00000352572.5:p.Ala1957Val
ENST00000480896.5:n.6139C>T
NM_001315529.1:c.5516C>T	NP_001302458.1:p.Ala1839Val
NM_006031.5:c.5870C>T	NP_006022.3:p.Ala1957Val
XM_005261124.3:c.5903C>T	XP_005261181.1:p.Ala1968Val
XM_011529593.1:c.5981C>T	XP_011527895.1:p.Ala1994Val
XM_011529594.1:c.5951C>T	XP_011527896.1:p.Ala1984Val
XM_005261124.5:c.5903C>T	XP_005261181.1:p.Ala1968Val
XM_011529594.3:c.5951C>T	XP_011527896.1:p.Ala1984Val
XM_017028362.2:c.5870C>T	XP_016883851.1:p.Ala1957Val
XM_017028363.1:c.5549C>T	XP_016883852.1:p.Ala1850Val
XM_024452082.1:c.4787C>T	XP_024307850.1:p.Ala1596Val
XM_024452083.1:c.3683C>T	XP_024307851.1:p.Ala1228Val
NM_006031.6:c.5870C>T MANE Select	NP_006022.3:p.Ala1957Val
NM_001315529.2:c.5516C>T	NP_001302458.1:p.Ala1839Val