Canonical Allele Identifier: CA513173735

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2900683
• ClinVar RCV Id: RCV003737274 ; RCV003892226
• dbSNP Id: rs2084951723
• gnomAD v4: 21-46366983-A-G
• MyVariant Identifiers: chr21:g.47786898A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366983A>G , CM000683.2:g.46366983A>G	GRCh38
NC_000021.8:g.47786898A>G , CM000683.1:g.47786898A>G	GRCh37
NC_000021.7:g.46611326A>G	NCBI36
NG_008961.1:g.47863A>G
NG_008961.2:g.47862A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.*1505A>G	ENSP00000511987.1:n.*1505A>G
ENST00000695525.1:n.3095A>G
ENST00000695558.1:c.3009A>G	ENSP00000512015.1:p.Lys1003=
ENST00000703224.1:c.*2252A>G	ENSP00000515242.1:n.*2252A>G
ENST00000359568.10:c.3009A>G MANE Select	ENSP00000352572.5:p.Lys1003=
ENST00000359568.9:c.3009A>G	ENSP00000352572.5:p.Lys1003=
ENST00000480896.5:n.3278A>G
NM_001315529.1:c.2655A>G	NP_001302458.1:p.Lys885=
NM_006031.5:c.3009A>G	NP_006022.3:p.Lys1003=
XM_005261124.3:c.3009A>G	XP_005261181.1:p.Lys1003=
XM_011529593.1:c.3090A>G	XP_011527895.1:p.Lys1030=
XM_011529594.1:c.3090A>G	XP_011527896.1:p.Lys1030=
XM_005261124.5:c.3009A>G	XP_005261181.1:p.Lys1003=
XM_011529594.3:c.3090A>G	XP_011527896.1:p.Lys1030=
XM_017028362.2:c.3009A>G	XP_016883851.1:p.Lys1003=
XM_017028363.1:c.2655A>G	XP_016883852.1:p.Lys885=
XM_024452082.1:c.1893A>G	XP_024307850.1:p.Lys631=
XM_024452083.1:c.789A>G	XP_024307851.1:p.Lys263=
NM_006031.6:c.3009A>G MANE Select	NP_006022.3:p.Lys1003=
NM_001315529.2:c.2655A>G	NP_001302458.1:p.Lys885=