Canonical Allele Identifier: CA10080054

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2168713
• ClinVar RCV Id: RCV003082707 ; RCV003926707
• dbSNP Id: rs769106161
• ExAC: 21:47831654 C / T
• gnomAD v2: 21-47831654-C-T
• gnomAD v3: 21-46411740-C-T
• gnomAD v4: 21-46411740-C-T
• MyVariant Identifiers: chr21:g.47831654C>T (hg19) ; chr21:g.46411740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411740C>T , CM000683.2:g.46411740C>T	GRCh38
NC_000021.8:g.47831654C>T , CM000683.1:g.47831654C>T	GRCh37
NC_000021.7:g.46656082C>T	NCBI36
NG_008961.1:g.92619C>T
NG_008961.2:g.92619C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.12C>T
ENST00000695558.1:c.5700C>T	ENSP00000512015.1:p.Ala1900=
ENST00000703224.1:c.*4910C>T	ENSP00000515242.1:n.*4910C>T
ENST00000359568.10:c.5667C>T MANE Select	ENSP00000352572.5:p.Ala1889=
ENST00000359568.9:c.5667C>T	ENSP00000352572.5:p.Ala1889=
ENST00000480896.5:n.5936C>T
NM_001315529.1:c.5313C>T	NP_001302458.1:p.Ala1771=
NM_006031.5:c.5667C>T	NP_006022.3:p.Ala1889=
XM_005261124.3:c.5700C>T	XP_005261181.1:p.Ala1900=
XM_011529593.1:c.5778C>T	XP_011527895.1:p.Ala1926=
XM_011529594.1:c.5748C>T	XP_011527896.1:p.Ala1916=
XM_005261124.5:c.5700C>T	XP_005261181.1:p.Ala1900=
XM_011529594.3:c.5748C>T	XP_011527896.1:p.Ala1916=
XM_017028362.2:c.5667C>T	XP_016883851.1:p.Ala1889=
XM_017028363.1:c.5346C>T	XP_016883852.1:p.Ala1782=
XM_024452082.1:c.4584C>T	XP_024307850.1:p.Ala1528=
XM_024452083.1:c.3480C>T	XP_024307851.1:p.Ala1160=
NM_006031.6:c.5667C>T MANE Select	NP_006022.3:p.Ala1889=
NM_001315529.2:c.5313C>T	NP_001302458.1:p.Ala1771=