Canonical Allele Identifier: CA173138

Gene: PCNT

Linked Data

• ClinVar Variation Id: 159686
• ClinVar RCV Id: RCV000147238 ; RCV000972985 ; RCV001001877
• dbSNP Id: rs60078675
• ExAC: 21:47856909 C / T
• gnomAD v2: 21-47856909-C-T
• gnomAD v3: 21-46436996-C-T
• gnomAD v4: 21-46436996-C-T
• MyVariant Identifiers: chr21:g.47856909C>T (hg19) ; chr21:g.46436996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46436996C>T , CM000683.2:g.46436996C>T	GRCh38
NC_000021.8:g.47856909C>T , CM000683.1:g.47856909C>T	GRCh37
NC_000021.7:g.46681337C>T	NCBI36
NG_008961.1:g.117874C>T
NG_008961.2:g.117875C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000418394.2:c.1596C>T
ENST00000695527.1:n.3359C>T
ENST00000695528.1:c.3047C>T	ENSP00000511990.1:p.Thr1016Met
ENST00000695529.1:n.2810C>T
ENST00000695530.1:c.1596C>T
ENST00000695531.1:n.2616C>T
ENST00000695532.1:n.2616C>T
ENST00000695533.1:n.1684C>T
ENST00000695534.1:n.1408C>T
ENST00000695535.1:n.489C>T
ENST00000695536.1:n.321C>T
ENST00000695558.1:c.9047C>T	ENSP00000512015.1:p.Thr3016Met
ENST00000703224.1:c.*8257C>T	ENSP00000515242.1:n.*8257C>T
ENST00000703226.1:n.1684C>T
ENST00000359568.10:c.9014C>T MANE Select	ENSP00000352572.5:p.Thr3005Met
ENST00000359568.9:c.9014C>T	ENSP00000352572.5:p.Thr3005Met
ENST00000480896.5:n.9046C>T
NM_001315529.1:c.8423C>T	NP_001302458.1:p.Thr2808Met
NM_006031.5:c.9014C>T	NP_006022.3:p.Thr3005Met
XM_005261124.3:c.9047C>T	XP_005261181.1:p.Thr3016Met
XM_011529593.1:c.9125C>T	XP_011527895.1:p.Thr3042Met
XM_011529594.1:c.9095C>T	XP_011527896.1:p.Thr3032Met
XM_005261124.5:c.9047C>T	XP_005261181.1:p.Thr3016Met
XM_011529594.3:c.9095C>T	XP_011527896.1:p.Thr3032Met
XM_017028362.2:c.8777C>T	XP_016883851.1:p.Thr2926Met
XM_017028363.1:c.8693C>T	XP_016883852.1:p.Thr2898Met
XM_024452082.1:c.7931C>T	XP_024307850.1:p.Thr2644Met
XM_024452083.1:c.6827C>T	XP_024307851.1:p.Thr2276Met
NM_006031.6:c.9014C>T MANE Select	NP_006022.3:p.Thr3005Met
NM_001315529.2:c.8423C>T	NP_001302458.1:p.Thr2808Met