Canonical Allele Identifier: CA245581

Gene: PCNT

Linked Data

• ClinVar Variation Id: 197441
• ClinVar RCV Id: RCV000178469
• dbSNP Id: rs794727667
• gnomAD v4: 21-46438210-T-C
• MyVariant Identifiers: chr21:g.47858123T>C (hg19) ; chr21:g.46438210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46438210T>C , CM000683.2:g.46438210T>C	GRCh38
NC_000021.8:g.47858123T>C , CM000683.1:g.47858123T>C	GRCh37
NC_000021.7:g.46682551T>C	NCBI36
NG_008961.1:g.119088T>C
NG_008961.2:g.119089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1728T>C
ENST00000695527.1:n.3491T>C
ENST00000695528.1:c.3179T>C	ENSP00000511990.1:p.Leu1060Pro
ENST00000695529.1:n.2942T>C
ENST00000695530.1:c.1728T>C
ENST00000695531.1:n.2748T>C
ENST00000695532.1:n.2748T>C
ENST00000695533.1:n.1816T>C
ENST00000695534.1:n.1540T>C
ENST00000695535.1:n.575-27T>C
ENST00000695536.1:n.453T>C
ENST00000695558.1:c.9179T>C	ENSP00000512015.1:p.Leu3060Pro
ENST00000703224.1:c.*8389T>C	ENSP00000515242.1:n.*8389T>C
ENST00000703226.1:n.1816T>C
ENST00000359568.10:c.9146T>C MANE Select	ENSP00000352572.5:p.Leu3049Pro
ENST00000359568.9:c.9146T>C	ENSP00000352572.5:p.Leu3049Pro
ENST00000418394.1:c.88T>C
ENST00000480896.5:n.9178T>C
NM_001315529.1:c.8555T>C	NP_001302458.1:p.Leu2852Pro
NM_006031.5:c.9146T>C	NP_006022.3:p.Leu3049Pro
XM_005261124.3:c.9179T>C	XP_005261181.1:p.Leu3060Pro
XM_011529593.1:c.9257T>C	XP_011527895.1:p.Leu3086Pro
XM_011529594.1:c.9227T>C	XP_011527896.1:p.Leu3076Pro
XM_005261124.5:c.9179T>C	XP_005261181.1:p.Leu3060Pro
XM_011529594.3:c.9227T>C	XP_011527896.1:p.Leu3076Pro
XM_017028362.2:c.8909T>C	XP_016883851.1:p.Leu2970Pro
XM_017028363.1:c.8825T>C	XP_016883852.1:p.Leu2942Pro
XM_024452082.1:c.8063T>C	XP_024307850.1:p.Leu2688Pro
XM_024452083.1:c.6959T>C	XP_024307851.1:p.Leu2320Pro
NM_006031.6:c.9146T>C MANE Select	NP_006022.3:p.Leu3049Pro
NM_001315529.2:c.8555T>C	NP_001302458.1:p.Leu2852Pro