Canonical Allele Identifier: CA173098

Gene: PCNT

Linked Data

• ClinVar Variation Id: 138605
• ClinVar RCV Id: RCV000147206 ; RCV001001726 ; RCV001573704
• dbSNP Id: rs12481791
• ExAC: 21:47848466 C / T
• gnomAD v2: 21-47848466-C-T
• gnomAD v3: 21-46428552-C-T
• gnomAD v4: 21-46428552-C-T
• MyVariant Identifiers: chr21:g.47848466C>T (hg19) ; chr21:g.46428552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46428552C>T , CM000683.2:g.46428552C>T	GRCh38
NC_000021.8:g.47848466C>T , CM000683.1:g.47848466C>T	GRCh37
NC_000021.7:g.46672894C>T	NCBI36
NG_008961.1:g.109431C>T
NG_008961.2:g.109431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.471C>T
ENST00000695527.1:n.1997C>T
ENST00000695528.1:c.1685C>T	ENSP00000511990.1:p.Ala562Val
ENST00000695529.1:n.1685C>T
ENST00000695530.1:c.471C>T
ENST00000695531.1:n.1254C>T
ENST00000695532.1:n.1254C>T
ENST00000695558.1:c.7685C>T	ENSP00000512015.1:p.Ala2562Val
ENST00000703224.1:c.*6895C>T	ENSP00000515242.1:n.*6895C>T
ENST00000359568.10:c.7652C>T MANE Select	ENSP00000352572.5:p.Ala2551Val
ENST00000359568.9:c.7652C>T	ENSP00000352572.5:p.Ala2551Val
ENST00000480896.5:n.7921C>T
NM_001315529.1:c.7298C>T	NP_001302458.1:p.Ala2433Val
NM_006031.5:c.7652C>T	NP_006022.3:p.Ala2551Val
XM_005261124.3:c.7685C>T	XP_005261181.1:p.Ala2562Val
XM_011529593.1:c.7763C>T	XP_011527895.1:p.Ala2588Val
XM_011529594.1:c.7733C>T	XP_011527896.1:p.Ala2578Val
XM_005261124.5:c.7685C>T	XP_005261181.1:p.Ala2562Val
XM_011529594.3:c.7733C>T	XP_011527896.1:p.Ala2578Val
XM_017028362.2:c.7652C>T	XP_016883851.1:p.Ala2551Val
XM_017028363.1:c.7331C>T	XP_016883852.1:p.Ala2444Val
XM_024452082.1:c.6569C>T	XP_024307850.1:p.Ala2190Val
XM_024452083.1:c.5465C>T	XP_024307851.1:p.Ala1822Val
NM_006031.6:c.7652C>T MANE Select	NP_006022.3:p.Ala2551Val
NM_001315529.2:c.7298C>T	NP_001302458.1:p.Ala2433Val