Canonical Allele Identifier: CA10080059

Gene: PCNT

Linked Data

• ClinVar Variation Id: 436202
• ClinVar RCV Id: RCV000502860 ; RCV001857142 ; RCV003424063
• dbSNP Id: rs113208348
• ExAC: 21:47831667 G / A
• gnomAD v2: 21-47831667-G-A
• gnomAD v3: 21-46411753-G-A
• gnomAD v4: 21-46411753-G-A
• MyVariant Identifiers: chr21:g.47831667G>A (hg19) ; chr21:g.46411753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411753G>A , CM000683.2:g.46411753G>A	GRCh38
NC_000021.8:g.47831667G>A , CM000683.1:g.47831667G>A	GRCh37
NC_000021.7:g.46656095G>A	NCBI36
NG_008961.1:g.92632G>A
NG_008961.2:g.92632G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.25G>A
ENST00000695558.1:c.5713G>A	ENSP00000512015.1:p.Val1905Ile
ENST00000703224.1:c.*4923G>A	ENSP00000515242.1:n.*4923G>A
ENST00000359568.10:c.5680G>A MANE Select	ENSP00000352572.5:p.Val1894Ile
ENST00000359568.9:c.5680G>A	ENSP00000352572.5:p.Val1894Ile
ENST00000480896.5:n.5949G>A
NM_001315529.1:c.5326G>A	NP_001302458.1:p.Val1776Ile
NM_006031.5:c.5680G>A	NP_006022.3:p.Val1894Ile
XM_005261124.3:c.5713G>A	XP_005261181.1:p.Val1905Ile
XM_011529593.1:c.5791G>A	XP_011527895.1:p.Val1931Ile
XM_011529594.1:c.5761G>A	XP_011527896.1:p.Val1921Ile
XM_005261124.5:c.5713G>A	XP_005261181.1:p.Val1905Ile
XM_011529594.3:c.5761G>A	XP_011527896.1:p.Val1921Ile
XM_017028362.2:c.5680G>A	XP_016883851.1:p.Val1894Ile
XM_017028363.1:c.5359G>A	XP_016883852.1:p.Val1787Ile
XM_024452082.1:c.4597G>A	XP_024307850.1:p.Val1533Ile
XM_024452083.1:c.3493G>A	XP_024307851.1:p.Val1165Ile
NM_006031.6:c.5680G>A MANE Select	NP_006022.3:p.Val1894Ile
NM_001315529.2:c.5326G>A	NP_001302458.1:p.Val1776Ile