Canonical Allele Identifier: CA410559785

Gene: PCNT

Linked Data

• dbSNP Id: rs1321044534
• gnomAD v2: 21-47773038-G-T
• gnomAD v4: 21-46353124-G-T
• MyVariant Identifiers: chr21:g.47773038G>T (hg19) ; chr21:g.46353124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46353124G>T , CM000683.2:g.46353124G>T	GRCh38
NC_000021.8:g.47773038G>T , CM000683.1:g.47773038G>T	GRCh37
NC_000021.7:g.46597466G>T	NCBI36
NG_008961.1:g.34003G>T
NG_008961.2:g.34003G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.1365G>T	ENSP00000511987.1:p.Trp455Cys
ENST00000695525.1:n.1563G>T
ENST00000695526.1:c.1402G>T	ENSP00000511988.1:p.Ala468Ser
ENST00000695558.1:c.1477G>T	ENSP00000512015.1:p.Ala493Ser
ENST00000703224.1:c.*720G>T	ENSP00000515242.1:n.*720G>T
ENST00000359568.10:c.1477G>T MANE Select	ENSP00000352572.5:p.Ala493Ser
ENST00000359568.9:c.1477G>T	ENSP00000352572.5:p.Ala493Ser
ENST00000466474.5:n.716G>T
ENST00000480896.5:n.1746G>T
ENST00000483844.1:n.532G>T
NM_001315529.1:c.1123G>T	NP_001302458.1:p.Ala375Ser
NM_006031.5:c.1477G>T	NP_006022.3:p.Ala493Ser
XM_005261124.3:c.1477G>T	XP_005261181.1:p.Ala493Ser
XM_011529593.1:c.1558G>T	XP_011527895.1:p.Ala520Ser
XM_011529594.1:c.1558G>T	XP_011527896.1:p.Ala520Ser
XM_005261124.5:c.1477G>T	XP_005261181.1:p.Ala493Ser
XM_011529594.3:c.1558G>T	XP_011527896.1:p.Ala520Ser
XM_017028362.2:c.1477G>T	XP_016883851.1:p.Ala493Ser
XM_017028363.1:c.1123G>T	XP_016883852.1:p.Ala375Ser
XM_024452082.1:c.361G>T	XP_024307850.1:p.Ala121Ser
XM_024452083.1:c.-744G>T	XP_024307851.1:n.-744G>T
NM_006031.6:c.1477G>T MANE Select	NP_006022.3:p.Ala493Ser
NM_001315529.2:c.1123G>T	NP_001302458.1:p.Ala375Ser