Canonical Allele Identifier: CA410569625

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786810G>T (hg19) ; chr21:g.46366895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366895G>T , CM000683.2:g.46366895G>T	GRCh38
NC_000021.8:g.47786810G>T , CM000683.1:g.47786810G>T	GRCh37
NC_000021.7:g.46611238G>T	NCBI36
NG_008961.1:g.47775G>T
NG_008961.2:g.47774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1417G>T	ENSP00000511987.1:n.*1417G>T
ENST00000695525.1:n.3007G>T
ENST00000695558.1:c.2921G>T	ENSP00000512015.1:p.Cys974Phe
ENST00000703224.1:c.*2164G>T	ENSP00000515242.1:n.*2164G>T
ENST00000359568.10:c.2921G>T MANE Select	ENSP00000352572.5:p.Cys974Phe
ENST00000359568.9:c.2921G>T	ENSP00000352572.5:p.Cys974Phe
ENST00000480896.5:n.3190G>T
NM_001315529.1:c.2567G>T	NP_001302458.1:p.Cys856Phe
NM_006031.5:c.2921G>T	NP_006022.3:p.Cys974Phe
XM_005261124.3:c.2921G>T	XP_005261181.1:p.Cys974Phe
XM_011529593.1:c.3002G>T	XP_011527895.1:p.Cys1001Phe
XM_011529594.1:c.3002G>T	XP_011527896.1:p.Cys1001Phe
XM_005261124.5:c.2921G>T	XP_005261181.1:p.Cys974Phe
XM_011529594.3:c.3002G>T	XP_011527896.1:p.Cys1001Phe
XM_017028362.2:c.2921G>T	XP_016883851.1:p.Cys974Phe
XM_017028363.1:c.2567G>T	XP_016883852.1:p.Cys856Phe
XM_024452082.1:c.1805G>T	XP_024307850.1:p.Cys602Phe
XM_024452083.1:c.701G>T	XP_024307851.1:p.Cys234Phe
NM_006031.6:c.2921G>T MANE Select	NP_006022.3:p.Cys974Phe
NM_001315529.2:c.2567G>T	NP_001302458.1:p.Cys856Phe