Canonical Allele Identifier: CA410555928

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831665C>A (hg19) ; chr21:g.46411751C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.23C>A
ENST00000695558.1:c.5711C>A	ENSP00000512015.1:p.Ala1904Asp
ENST00000703224.1:c.*4921C>A	ENSP00000515242.1:n.*4921C>A
ENST00000359568.10:c.5678C>A MANE Select	ENSP00000352572.5:p.Ala1893Asp
ENST00000359568.9:c.5678C>A	ENSP00000352572.5:p.Ala1893Asp
ENST00000480896.5:n.5947C>A
NM_001315529.1:c.5324C>A	NP_001302458.1:p.Ala1775Asp
NM_006031.5:c.5678C>A	NP_006022.3:p.Ala1893Asp
XM_005261124.3:c.5711C>A	XP_005261181.1:p.Ala1904Asp
XM_011529593.1:c.5789C>A	XP_011527895.1:p.Ala1930Asp
XM_011529594.1:c.5759C>A	XP_011527896.1:p.Ala1920Asp
XM_005261124.5:c.5711C>A	XP_005261181.1:p.Ala1904Asp
XM_011529594.3:c.5759C>A	XP_011527896.1:p.Ala1920Asp
XM_017028362.2:c.5678C>A	XP_016883851.1:p.Ala1893Asp
XM_017028363.1:c.5357C>A	XP_016883852.1:p.Ala1786Asp
XM_024452082.1:c.4595C>A	XP_024307850.1:p.Ala1532Asp
XM_024452083.1:c.3491C>A	XP_024307851.1:p.Ala1164Asp
NM_006031.6:c.5678C>A MANE Select	NP_006022.3:p.Ala1893Asp
NM_001315529.2:c.5324C>A	NP_001302458.1:p.Ala1775Asp