Canonical Allele Identifier: CA10080090

Gene: PCNT

Linked Data

• ClinVar Variation Id: 1407698
• ClinVar RCV Id: RCV001937859
• dbSNP Id: rs771047395
• ExAC: 21:47831778 C / T
• gnomAD v2: 21-47831778-C-T
• gnomAD v3: 21-46411864-C-T
• gnomAD v4: 21-46411864-C-T
• MyVariant Identifiers: chr21:g.47831778C>T (hg19) ; chr21:g.46411864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411864C>T , CM000683.2:g.46411864C>T	GRCh38
NC_000021.8:g.47831778C>T , CM000683.1:g.47831778C>T	GRCh37
NC_000021.7:g.46656206C>T	NCBI36
NG_008961.1:g.92743C>T
NG_008961.2:g.92743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.136C>T
ENST00000695558.1:c.5824C>T	ENSP00000512015.1:p.Arg1942Cys
ENST00000703224.1:c.*5034C>T	ENSP00000515242.1:n.*5034C>T
ENST00000359568.10:c.5791C>T MANE Select	ENSP00000352572.5:p.Arg1931Cys
ENST00000359568.9:c.5791C>T	ENSP00000352572.5:p.Arg1931Cys
ENST00000480896.5:n.6060C>T
NM_001315529.1:c.5437C>T	NP_001302458.1:p.Arg1813Cys
NM_006031.5:c.5791C>T	NP_006022.3:p.Arg1931Cys
XM_005261124.3:c.5824C>T	XP_005261181.1:p.Arg1942Cys
XM_011529593.1:c.5902C>T	XP_011527895.1:p.Arg1968Cys
XM_011529594.1:c.5872C>T	XP_011527896.1:p.Arg1958Cys
XM_005261124.5:c.5824C>T	XP_005261181.1:p.Arg1942Cys
XM_011529594.3:c.5872C>T	XP_011527896.1:p.Arg1958Cys
XM_017028362.2:c.5791C>T	XP_016883851.1:p.Arg1931Cys
XM_017028363.1:c.5470C>T	XP_016883852.1:p.Arg1824Cys
XM_024452082.1:c.4708C>T	XP_024307850.1:p.Arg1570Cys
XM_024452083.1:c.3604C>T	XP_024307851.1:p.Arg1202Cys
NM_006031.6:c.5791C>T MANE Select	NP_006022.3:p.Arg1931Cys
NM_001315529.2:c.5437C>T	NP_001302458.1:p.Arg1813Cys