Canonical Allele Identifier: CA410570088

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786920A>T (hg19) ; chr21:g.46367005A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367005A>T , CM000683.2:g.46367005A>T	GRCh38
NC_000021.8:g.47786920A>T , CM000683.1:g.47786920A>T	GRCh37
NC_000021.7:g.46611348A>T	NCBI36
NG_008961.1:g.47885A>T
NG_008961.2:g.47884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1527A>T	ENSP00000511987.1:n.*1527A>T
ENST00000695525.1:n.3117A>T
ENST00000695558.1:c.3031A>T	ENSP00000512015.1:p.Ile1011Phe
ENST00000703224.1:c.*2274A>T	ENSP00000515242.1:n.*2274A>T
ENST00000359568.10:c.3031A>T MANE Select	ENSP00000352572.5:p.Ile1011Phe
ENST00000359568.9:c.3031A>T	ENSP00000352572.5:p.Ile1011Phe
ENST00000480896.5:n.3300A>T
NM_001315529.1:c.2677A>T	NP_001302458.1:p.Ile893Phe
NM_006031.5:c.3031A>T	NP_006022.3:p.Ile1011Phe
XM_005261124.3:c.3031A>T	XP_005261181.1:p.Ile1011Phe
XM_011529593.1:c.3112A>T	XP_011527895.1:p.Ile1038Phe
XM_011529594.1:c.3112A>T	XP_011527896.1:p.Ile1038Phe
XM_005261124.5:c.3031A>T	XP_005261181.1:p.Ile1011Phe
XM_011529594.3:c.3112A>T	XP_011527896.1:p.Ile1038Phe
XM_017028362.2:c.3031A>T	XP_016883851.1:p.Ile1011Phe
XM_017028363.1:c.2677A>T	XP_016883852.1:p.Ile893Phe
XM_024452082.1:c.1915A>T	XP_024307850.1:p.Ile639Phe
XM_024452083.1:c.811A>T	XP_024307851.1:p.Ile271Phe
NM_006031.6:c.3031A>T MANE Select	NP_006022.3:p.Ile1011Phe
NM_001315529.2:c.2677A>T	NP_001302458.1:p.Ile893Phe