Canonical Allele Identifier: CA410569717

Gene: PCNT

Linked Data

• dbSNP Id: rs2084950106
• gnomAD v4: 21-46366937-A-G
• MyVariant Identifiers: chr21:g.47786852A>G (hg19) ; chr21:g.46366937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366937A>G , CM000683.2:g.46366937A>G	GRCh38
NC_000021.8:g.47786852A>G , CM000683.1:g.47786852A>G	GRCh37
NC_000021.7:g.46611280A>G	NCBI36
NG_008961.1:g.47817A>G
NG_008961.2:g.47816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1459A>G	ENSP00000511987.1:n.*1459A>G
ENST00000695525.1:n.3049A>G
ENST00000695558.1:c.2963A>G	ENSP00000512015.1:p.Gln988Arg
ENST00000703224.1:c.*2206A>G	ENSP00000515242.1:n.*2206A>G
ENST00000359568.10:c.2963A>G MANE Select	ENSP00000352572.5:p.Gln988Arg
ENST00000359568.9:c.2963A>G	ENSP00000352572.5:p.Gln988Arg
ENST00000480896.5:n.3232A>G
NM_001315529.1:c.2609A>G	NP_001302458.1:p.Gln870Arg
NM_006031.5:c.2963A>G	NP_006022.3:p.Gln988Arg
XM_005261124.3:c.2963A>G	XP_005261181.1:p.Gln988Arg
XM_011529593.1:c.3044A>G	XP_011527895.1:p.Gln1015Arg
XM_011529594.1:c.3044A>G	XP_011527896.1:p.Gln1015Arg
XM_005261124.5:c.2963A>G	XP_005261181.1:p.Gln988Arg
XM_011529594.3:c.3044A>G	XP_011527896.1:p.Gln1015Arg
XM_017028362.2:c.2963A>G	XP_016883851.1:p.Gln988Arg
XM_017028363.1:c.2609A>G	XP_016883852.1:p.Gln870Arg
XM_024452082.1:c.1847A>G	XP_024307850.1:p.Gln616Arg
XM_024452083.1:c.743A>G	XP_024307851.1:p.Gln248Arg
NM_006031.6:c.2963A>G MANE Select	NP_006022.3:p.Gln988Arg
NM_001315529.2:c.2609A>G	NP_001302458.1:p.Gln870Arg