Canonical Allele Identifier: CA10080102

Gene: PCNT

Linked Data

• ClinVar Variation Id: 287397
• ClinVar RCV Id: RCV000286792 ; RCV000726003 ; RCV000765510 ; RCV003910001
• dbSNP Id: rs370664761
• ExAC: 21:47831842 C / T
• gnomAD v2: 21-47831842-C-T
• gnomAD v3: 21-46411928-C-T
• gnomAD v4: 21-46411928-C-T
• MyVariant Identifiers: chr21:g.47831842C>T (hg19) ; chr21:g.46411928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411928C>T , CM000683.2:g.46411928C>T	GRCh38
NC_000021.8:g.47831842C>T , CM000683.1:g.47831842C>T	GRCh37
NC_000021.7:g.46656270C>T	NCBI36
NG_008961.1:g.92807C>T
NG_008961.2:g.92807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.200C>T
ENST00000695528.1:c.29C>T	ENSP00000511990.1:p.Ala10Val
ENST00000695529.1:n.29C>T
ENST00000695558.1:c.5888C>T	ENSP00000512015.1:p.Ala1963Val
ENST00000703224.1:c.*5098C>T	ENSP00000515242.1:n.*5098C>T
ENST00000359568.10:c.5855C>T MANE Select	ENSP00000352572.5:p.Ala1952Val
ENST00000359568.9:c.5855C>T	ENSP00000352572.5:p.Ala1952Val
ENST00000480896.5:n.6124C>T
NM_001315529.1:c.5501C>T	NP_001302458.1:p.Ala1834Val
NM_006031.5:c.5855C>T	NP_006022.3:p.Ala1952Val
XM_005261124.3:c.5888C>T	XP_005261181.1:p.Ala1963Val
XM_011529593.1:c.5966C>T	XP_011527895.1:p.Ala1989Val
XM_011529594.1:c.5936C>T	XP_011527896.1:p.Ala1979Val
XM_005261124.5:c.5888C>T	XP_005261181.1:p.Ala1963Val
XM_011529594.3:c.5936C>T	XP_011527896.1:p.Ala1979Val
XM_017028362.2:c.5855C>T	XP_016883851.1:p.Ala1952Val
XM_017028363.1:c.5534C>T	XP_016883852.1:p.Ala1845Val
XM_024452082.1:c.4772C>T	XP_024307850.1:p.Ala1591Val
XM_024452083.1:c.3668C>T	XP_024307851.1:p.Ala1223Val
NM_006031.6:c.5855C>T MANE Select	NP_006022.3:p.Ala1952Val
NM_001315529.2:c.5501C>T	NP_001302458.1:p.Ala1834Val