Canonical Allele Identifier: CA410555923

Gene: PCNT

Linked Data

• dbSNP Id: rs1569269515
• gnomAD v4: 21-46411751-C-T
• MyVariant Identifiers: chr21:g.47831665C>T (hg19) ; chr21:g.46411751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411751C>T , CM000683.2:g.46411751C>T	GRCh38
NC_000021.8:g.47831665C>T , CM000683.1:g.47831665C>T	GRCh37
NC_000021.7:g.46656093C>T	NCBI36
NG_008961.1:g.92630C>T
NG_008961.2:g.92630C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.23C>T
ENST00000695558.1:c.5711C>T	ENSP00000512015.1:p.Ala1904Val
ENST00000703224.1:c.*4921C>T	ENSP00000515242.1:n.*4921C>T
ENST00000359568.10:c.5678C>T MANE Select	ENSP00000352572.5:p.Ala1893Val
ENST00000359568.9:c.5678C>T	ENSP00000352572.5:p.Ala1893Val
ENST00000480896.5:n.5947C>T
NM_001315529.1:c.5324C>T	NP_001302458.1:p.Ala1775Val
NM_006031.5:c.5678C>T	NP_006022.3:p.Ala1893Val
XM_005261124.3:c.5711C>T	XP_005261181.1:p.Ala1904Val
XM_011529593.1:c.5789C>T	XP_011527895.1:p.Ala1930Val
XM_011529594.1:c.5759C>T	XP_011527896.1:p.Ala1920Val
XM_005261124.5:c.5711C>T	XP_005261181.1:p.Ala1904Val
XM_011529594.3:c.5759C>T	XP_011527896.1:p.Ala1920Val
XM_017028362.2:c.5678C>T	XP_016883851.1:p.Ala1893Val
XM_017028363.1:c.5357C>T	XP_016883852.1:p.Ala1786Val
XM_024452082.1:c.4595C>T	XP_024307850.1:p.Ala1532Val
XM_024452083.1:c.3491C>T	XP_024307851.1:p.Ala1164Val
NM_006031.6:c.5678C>T MANE Select	NP_006022.3:p.Ala1893Val
NM_001315529.2:c.5324C>T	NP_001302458.1:p.Ala1775Val