Canonical Allele Identifier: CA512734465

Gene: PCNT

Linked Data

• dbSNP Id: rs1242242199
• gnomAD v2: 21-47786968-C-T
• gnomAD v4: 21-46367053-C-T
• MyVariant Identifiers: chr21:g.47786968C>T (hg19) ; chr21:g.46367053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367053C>T , CM000683.2:g.46367053C>T	GRCh38
NC_000021.8:g.47786968C>T , CM000683.1:g.47786968C>T	GRCh37
NC_000021.7:g.46611396C>T	NCBI36
NG_008961.1:g.47933C>T
NG_008961.2:g.47932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1575C>T	ENSP00000511987.1:n.*1575C>T
ENST00000695525.1:n.3165C>T
ENST00000695558.1:c.3079C>T	ENSP00000512015.1:p.Leu1027=
ENST00000703224.1:c.*2322C>T	ENSP00000515242.1:n.*2322C>T
ENST00000359568.10:c.3079C>T MANE Select	ENSP00000352572.5:p.Leu1027=
ENST00000359568.9:c.3079C>T	ENSP00000352572.5:p.Leu1027=
ENST00000480896.5:n.3348C>T
NM_001315529.1:c.2725C>T	NP_001302458.1:p.Leu909=
NM_006031.5:c.3079C>T	NP_006022.3:p.Leu1027=
XM_005261124.3:c.3079C>T	XP_005261181.1:p.Leu1027=
XM_011529593.1:c.3160C>T	XP_011527895.1:p.Leu1054=
XM_011529594.1:c.3160C>T	XP_011527896.1:p.Leu1054=
XM_005261124.5:c.3079C>T	XP_005261181.1:p.Leu1027=
XM_011529594.3:c.3160C>T	XP_011527896.1:p.Leu1054=
XM_017028362.2:c.3079C>T	XP_016883851.1:p.Leu1027=
XM_017028363.1:c.2725C>T	XP_016883852.1:p.Leu909=
XM_024452082.1:c.1963C>T	XP_024307850.1:p.Leu655=
XM_024452083.1:c.859C>T	XP_024307851.1:p.Leu287=
NM_006031.6:c.3079C>T MANE Select	NP_006022.3:p.Leu1027=
NM_001315529.2:c.2725C>T	NP_001302458.1:p.Leu909=