Canonical Allele Identifier: CA410556717

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411846-C-A
• MyVariant Identifiers: chr21:g.47831760C>A (hg19) ; chr21:g.46411846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411846C>A , CM000683.2:g.46411846C>A	GRCh38
NC_000021.8:g.47831760C>A , CM000683.1:g.47831760C>A	GRCh37
NC_000021.7:g.46656188C>A	NCBI36
NG_008961.1:g.92725C>A
NG_008961.2:g.92725C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.118C>A
ENST00000695558.1:c.5806C>A	ENSP00000512015.1:p.Gln1936Lys
ENST00000703224.1:c.*5016C>A	ENSP00000515242.1:n.*5016C>A
ENST00000359568.10:c.5773C>A MANE Select	ENSP00000352572.5:p.Gln1925Lys
ENST00000359568.9:c.5773C>A	ENSP00000352572.5:p.Gln1925Lys
ENST00000480896.5:n.6042C>A
NM_001315529.1:c.5419C>A	NP_001302458.1:p.Gln1807Lys
NM_006031.5:c.5773C>A	NP_006022.3:p.Gln1925Lys
XM_005261124.3:c.5806C>A	XP_005261181.1:p.Gln1936Lys
XM_011529593.1:c.5884C>A	XP_011527895.1:p.Gln1962Lys
XM_011529594.1:c.5854C>A	XP_011527896.1:p.Gln1952Lys
XM_005261124.5:c.5806C>A	XP_005261181.1:p.Gln1936Lys
XM_011529594.3:c.5854C>A	XP_011527896.1:p.Gln1952Lys
XM_017028362.2:c.5773C>A	XP_016883851.1:p.Gln1925Lys
XM_017028363.1:c.5452C>A	XP_016883852.1:p.Gln1818Lys
XM_024452082.1:c.4690C>A	XP_024307850.1:p.Gln1564Lys
XM_024452083.1:c.3586C>A	XP_024307851.1:p.Gln1196Lys
NM_006031.6:c.5773C>A MANE Select	NP_006022.3:p.Gln1925Lys
NM_001315529.2:c.5419C>A	NP_001302458.1:p.Gln1807Lys