Canonical Allele Identifier: CA410571793

Gene: PCNT

Linked Data

• ClinVar Variation Id: 437418
• ClinVar RCV Id: RCV000501426
• dbSNP Id: rs1555999948
• MyVariant Identifiers: chr21:g.47850037G>T (hg19) ; chr21:g.46430123G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46430123G>T , CM000683.2:g.46430123G>T	GRCh38
NC_000021.8:g.47850037G>T , CM000683.1:g.47850037G>T	GRCh37
NC_000021.7:g.46674465G>T	NCBI36
NG_008961.1:g.111002G>T
NG_008961.2:g.111002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.623G>T
ENST00000695527.1:n.2149G>T
ENST00000695528.1:c.1837G>T	ENSP00000511990.1:p.Glu613Ter
ENST00000695529.1:n.1837G>T
ENST00000695530.1:c.623G>T
ENST00000695531.1:n.1406G>T
ENST00000695532.1:n.1406G>T
ENST00000695533.1:n.423G>T
ENST00000695558.1:c.7837G>T	ENSP00000512015.1:p.Glu2613Ter
ENST00000703224.1:c.*7047G>T	ENSP00000515242.1:n.*7047G>T
ENST00000703226.1:n.423G>T
ENST00000359568.10:c.7804G>T MANE Select	ENSP00000352572.5:p.Glu2602Ter
ENST00000359568.9:c.7804G>T	ENSP00000352572.5:p.Glu2602Ter
ENST00000480896.5:n.8073G>T
NM_001315529.1:c.7450G>T	NP_001302458.1:p.Glu2484Ter
NM_006031.5:c.7804G>T	NP_006022.3:p.Glu2602Ter
XM_005261124.3:c.7837G>T	XP_005261181.1:p.Glu2613Ter
XM_011529593.1:c.7915G>T	XP_011527895.1:p.Glu2639Ter
XM_011529594.1:c.7885G>T	XP_011527896.1:p.Glu2629Ter
XM_005261124.5:c.7837G>T	XP_005261181.1:p.Glu2613Ter
XM_011529594.3:c.7885G>T	XP_011527896.1:p.Glu2629Ter
XM_017028362.2:c.7804G>T	XP_016883851.1:p.Glu2602Ter
XM_017028363.1:c.7483G>T	XP_016883852.1:p.Glu2495Ter
XM_024452082.1:c.6721G>T	XP_024307850.1:p.Glu2241Ter
XM_024452083.1:c.5617G>T	XP_024307851.1:p.Glu1873Ter
NM_006031.6:c.7804G>T MANE Select	NP_006022.3:p.Glu2602Ter
NM_001315529.2:c.7450G>T	NP_001302458.1:p.Glu2484Ter