Canonical Allele Identifier: CA10080058

Gene: PCNT

Linked Data

• ClinVar Variation Id: 436242
• ClinVar RCV Id: RCV003114628
• dbSNP Id: rs761816773
• ExAC: 21:47831666 C / T
• gnomAD v2: 21-47831666-C-T
• gnomAD v3: 21-46411752-C-T
• gnomAD v4: 21-46411752-C-T
• MyVariant Identifiers: chr21:g.47831666C>T (hg19) ; chr21:g.46411752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411752C>T , CM000683.2:g.46411752C>T	GRCh38
NC_000021.8:g.47831666C>T , CM000683.1:g.47831666C>T	GRCh37
NC_000021.7:g.46656094C>T	NCBI36
NG_008961.1:g.92631C>T
NG_008961.2:g.92631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.24C>T
ENST00000695558.1:c.5712C>T	ENSP00000512015.1:p.Ala1904=
ENST00000703224.1:c.*4922C>T	ENSP00000515242.1:n.*4922C>T
ENST00000359568.10:c.5679C>T MANE Select	ENSP00000352572.5:p.Ala1893=
ENST00000359568.9:c.5679C>T	ENSP00000352572.5:p.Ala1893=
ENST00000480896.5:n.5948C>T
NM_001315529.1:c.5325C>T	NP_001302458.1:p.Ala1775=
NM_006031.5:c.5679C>T	NP_006022.3:p.Ala1893=
XM_005261124.3:c.5712C>T	XP_005261181.1:p.Ala1904=
XM_011529593.1:c.5790C>T	XP_011527895.1:p.Ala1930=
XM_011529594.1:c.5760C>T	XP_011527896.1:p.Ala1920=
XM_005261124.5:c.5712C>T	XP_005261181.1:p.Ala1904=
XM_011529594.3:c.5760C>T	XP_011527896.1:p.Ala1920=
XM_017028362.2:c.5679C>T	XP_016883851.1:p.Ala1893=
XM_017028363.1:c.5358C>T	XP_016883852.1:p.Ala1786=
XM_024452082.1:c.4596C>T	XP_024307850.1:p.Ala1532=
XM_024452083.1:c.3492C>T	XP_024307851.1:p.Ala1164=
NM_006031.6:c.5679C>T MANE Select	NP_006022.3:p.Ala1893=
NM_001315529.2:c.5325C>T	NP_001302458.1:p.Ala1775=