Canonical Allele Identifier: CA410570101

Gene: PCNT

Linked Data

• dbSNP Id: rs2084952383
• gnomAD v4: 21-46367007-T-G
• MyVariant Identifiers: chr21:g.47786922T>G (hg19) ; chr21:g.46367007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367007T>G , CM000683.2:g.46367007T>G	GRCh38
NC_000021.8:g.47786922T>G , CM000683.1:g.47786922T>G	GRCh37
NC_000021.7:g.46611350T>G	NCBI36
NG_008961.1:g.47887T>G
NG_008961.2:g.47886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1529T>G	ENSP00000511987.1:n.*1529T>G
ENST00000695525.1:n.3119T>G
ENST00000695558.1:c.3033T>G	ENSP00000512015.1:p.Ile1011Met
ENST00000703224.1:c.*2276T>G	ENSP00000515242.1:n.*2276T>G
ENST00000359568.10:c.3033T>G MANE Select	ENSP00000352572.5:p.Ile1011Met
ENST00000359568.9:c.3033T>G	ENSP00000352572.5:p.Ile1011Met
ENST00000480896.5:n.3302T>G
NM_001315529.1:c.2679T>G	NP_001302458.1:p.Ile893Met
NM_006031.5:c.3033T>G	NP_006022.3:p.Ile1011Met
XM_005261124.3:c.3033T>G	XP_005261181.1:p.Ile1011Met
XM_011529593.1:c.3114T>G	XP_011527895.1:p.Ile1038Met
XM_011529594.1:c.3114T>G	XP_011527896.1:p.Ile1038Met
XM_005261124.5:c.3033T>G	XP_005261181.1:p.Ile1011Met
XM_011529594.3:c.3114T>G	XP_011527896.1:p.Ile1038Met
XM_017028362.2:c.3033T>G	XP_016883851.1:p.Ile1011Met
XM_017028363.1:c.2679T>G	XP_016883852.1:p.Ile893Met
XM_024452082.1:c.1917T>G	XP_024307850.1:p.Ile639Met
XM_024452083.1:c.813T>G	XP_024307851.1:p.Ile271Met
NM_006031.6:c.3033T>G MANE Select	NP_006022.3:p.Ile1011Met
NM_001315529.2:c.2679T>G	NP_001302458.1:p.Ile893Met