Canonical Allele Identifier: CA410556670

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831754C>G (hg19) ; chr21:g.46411840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411840C>G , CM000683.2:g.46411840C>G	GRCh38
NC_000021.8:g.47831754C>G , CM000683.1:g.47831754C>G	GRCh37
NC_000021.7:g.46656182C>G	NCBI36
NG_008961.1:g.92719C>G
NG_008961.2:g.92719C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.112C>G
ENST00000695558.1:c.5800C>G	ENSP00000512015.1:p.Arg1934Gly
ENST00000703224.1:c.*5010C>G	ENSP00000515242.1:n.*5010C>G
ENST00000359568.10:c.5767C>G MANE Select	ENSP00000352572.5:p.Arg1923Gly
ENST00000359568.9:c.5767C>G	ENSP00000352572.5:p.Arg1923Gly
ENST00000480896.5:n.6036C>G
NM_001315529.1:c.5413C>G	NP_001302458.1:p.Arg1805Gly
NM_006031.5:c.5767C>G	NP_006022.3:p.Arg1923Gly
XM_005261124.3:c.5800C>G	XP_005261181.1:p.Arg1934Gly
XM_011529593.1:c.5878C>G	XP_011527895.1:p.Arg1960Gly
XM_011529594.1:c.5848C>G	XP_011527896.1:p.Arg1950Gly
XM_005261124.5:c.5800C>G	XP_005261181.1:p.Arg1934Gly
XM_011529594.3:c.5848C>G	XP_011527896.1:p.Arg1950Gly
XM_017028362.2:c.5767C>G	XP_016883851.1:p.Arg1923Gly
XM_017028363.1:c.5446C>G	XP_016883852.1:p.Arg1816Gly
XM_024452082.1:c.4684C>G	XP_024307850.1:p.Arg1562Gly
XM_024452083.1:c.3580C>G	XP_024307851.1:p.Arg1194Gly
NM_006031.6:c.5767C>G MANE Select	NP_006022.3:p.Arg1923Gly
NM_001315529.2:c.5413C>G	NP_001302458.1:p.Arg1805Gly