Canonical Allele Identifier: CA410556761

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411850-G-A
• MyVariant Identifiers: chr21:g.47831764G>A (hg19) ; chr21:g.46411850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411850G>A , CM000683.2:g.46411850G>A	GRCh38
NC_000021.8:g.47831764G>A , CM000683.1:g.47831764G>A	GRCh37
NC_000021.7:g.46656192G>A	NCBI36
NG_008961.1:g.92729G>A
NG_008961.2:g.92729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.122G>A
ENST00000695558.1:c.5810G>A	ENSP00000512015.1:p.Cys1937Tyr
ENST00000703224.1:c.*5020G>A	ENSP00000515242.1:n.*5020G>A
ENST00000359568.10:c.5777G>A MANE Select	ENSP00000352572.5:p.Cys1926Tyr
ENST00000359568.9:c.5777G>A	ENSP00000352572.5:p.Cys1926Tyr
ENST00000480896.5:n.6046G>A
NM_001315529.1:c.5423G>A	NP_001302458.1:p.Cys1808Tyr
NM_006031.5:c.5777G>A	NP_006022.3:p.Cys1926Tyr
XM_005261124.3:c.5810G>A	XP_005261181.1:p.Cys1937Tyr
XM_011529593.1:c.5888G>A	XP_011527895.1:p.Cys1963Tyr
XM_011529594.1:c.5858G>A	XP_011527896.1:p.Cys1953Tyr
XM_005261124.5:c.5810G>A	XP_005261181.1:p.Cys1937Tyr
XM_011529594.3:c.5858G>A	XP_011527896.1:p.Cys1953Tyr
XM_017028362.2:c.5777G>A	XP_016883851.1:p.Cys1926Tyr
XM_017028363.1:c.5456G>A	XP_016883852.1:p.Cys1819Tyr
XM_024452082.1:c.4694G>A	XP_024307850.1:p.Cys1565Tyr
XM_024452083.1:c.3590G>A	XP_024307851.1:p.Cys1197Tyr
NM_006031.6:c.5777G>A MANE Select	NP_006022.3:p.Cys1926Tyr
NM_001315529.2:c.5423G>A	NP_001302458.1:p.Cys1808Tyr