Canonical Allele Identifier: CA410570530

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367092-A-T
• MyVariant Identifiers: chr21:g.47787007A>T (hg19) ; chr21:g.46367092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367092A>T , CM000683.2:g.46367092A>T	GRCh38
NC_000021.8:g.47787007A>T , CM000683.1:g.47787007A>T	GRCh37
NC_000021.7:g.46611435A>T	NCBI36
NG_008961.1:g.47972A>T
NG_008961.2:g.47971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1614A>T	ENSP00000511987.1:n.*1614A>T
ENST00000695525.1:n.3204A>T
ENST00000695558.1:c.3118A>T	ENSP00000512015.1:p.Thr1040Ser
ENST00000703224.1:c.*2361A>T	ENSP00000515242.1:n.*2361A>T
ENST00000359568.10:c.3118A>T MANE Select	ENSP00000352572.5:p.Thr1040Ser
ENST00000359568.9:c.3118A>T	ENSP00000352572.5:p.Thr1040Ser
ENST00000480896.5:n.3387A>T
NM_001315529.1:c.2764A>T	NP_001302458.1:p.Thr922Ser
NM_006031.5:c.3118A>T	NP_006022.3:p.Thr1040Ser
XM_005261124.3:c.3118A>T	XP_005261181.1:p.Thr1040Ser
XM_011529593.1:c.3199A>T	XP_011527895.1:p.Thr1067Ser
XM_011529594.1:c.3199A>T	XP_011527896.1:p.Thr1067Ser
XM_005261124.5:c.3118A>T	XP_005261181.1:p.Thr1040Ser
XM_011529594.3:c.3199A>T	XP_011527896.1:p.Thr1067Ser
XM_017028362.2:c.3118A>T	XP_016883851.1:p.Thr1040Ser
XM_017028363.1:c.2764A>T	XP_016883852.1:p.Thr922Ser
XM_024452082.1:c.2002A>T	XP_024307850.1:p.Thr668Ser
XM_024452083.1:c.898A>T	XP_024307851.1:p.Thr300Ser
NM_006031.6:c.3118A>T MANE Select	NP_006022.3:p.Thr1040Ser
NM_001315529.2:c.2764A>T	NP_001302458.1:p.Thr922Ser