Canonical Allele Identifier: CA410557341

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831851C>T (hg19) ; chr21:g.46411937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411937C>T , CM000683.2:g.46411937C>T	GRCh38
NC_000021.8:g.47831851C>T , CM000683.1:g.47831851C>T	GRCh37
NC_000021.7:g.46656279C>T	NCBI36
NG_008961.1:g.92816C>T
NG_008961.2:g.92816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.209C>T
ENST00000695528.1:c.38C>T	ENSP00000511990.1:p.Ala13Val
ENST00000695529.1:n.38C>T
ENST00000695558.1:c.5897C>T	ENSP00000512015.1:p.Ala1966Val
ENST00000703224.1:c.*5107C>T	ENSP00000515242.1:n.*5107C>T
ENST00000359568.10:c.5864C>T MANE Select	ENSP00000352572.5:p.Ala1955Val
ENST00000359568.9:c.5864C>T	ENSP00000352572.5:p.Ala1955Val
ENST00000480896.5:n.6133C>T
NM_001315529.1:c.5510C>T	NP_001302458.1:p.Ala1837Val
NM_006031.5:c.5864C>T	NP_006022.3:p.Ala1955Val
XM_005261124.3:c.5897C>T	XP_005261181.1:p.Ala1966Val
XM_011529593.1:c.5975C>T	XP_011527895.1:p.Ala1992Val
XM_011529594.1:c.5945C>T	XP_011527896.1:p.Ala1982Val
XM_005261124.5:c.5897C>T	XP_005261181.1:p.Ala1966Val
XM_011529594.3:c.5945C>T	XP_011527896.1:p.Ala1982Val
XM_017028362.2:c.5864C>T	XP_016883851.1:p.Ala1955Val
XM_017028363.1:c.5543C>T	XP_016883852.1:p.Ala1848Val
XM_024452082.1:c.4781C>T	XP_024307850.1:p.Ala1594Val
XM_024452083.1:c.3677C>T	XP_024307851.1:p.Ala1226Val
NM_006031.6:c.5864C>T MANE Select	NP_006022.3:p.Ala1955Val
NM_001315529.2:c.5510C>T	NP_001302458.1:p.Ala1837Val