Canonical Allele Identifier: CA410570142

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786929C>A (hg19) ; chr21:g.46367014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367014C>A , CM000683.2:g.46367014C>A	GRCh38
NC_000021.8:g.47786929C>A , CM000683.1:g.47786929C>A	GRCh37
NC_000021.7:g.46611357C>A	NCBI36
NG_008961.1:g.47894C>A
NG_008961.2:g.47893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1536C>A	ENSP00000511987.1:n.*1536C>A
ENST00000695525.1:n.3126C>A
ENST00000695558.1:c.3040C>A	ENSP00000512015.1:p.Gln1014Lys
ENST00000703224.1:c.*2283C>A	ENSP00000515242.1:n.*2283C>A
ENST00000359568.10:c.3040C>A MANE Select	ENSP00000352572.5:p.Gln1014Lys
ENST00000359568.9:c.3040C>A	ENSP00000352572.5:p.Gln1014Lys
ENST00000480896.5:n.3309C>A
NM_001315529.1:c.2686C>A	NP_001302458.1:p.Gln896Lys
NM_006031.5:c.3040C>A	NP_006022.3:p.Gln1014Lys
XM_005261124.3:c.3040C>A	XP_005261181.1:p.Gln1014Lys
XM_011529593.1:c.3121C>A	XP_011527895.1:p.Gln1041Lys
XM_011529594.1:c.3121C>A	XP_011527896.1:p.Gln1041Lys
XM_005261124.5:c.3040C>A	XP_005261181.1:p.Gln1014Lys
XM_011529594.3:c.3121C>A	XP_011527896.1:p.Gln1041Lys
XM_017028362.2:c.3040C>A	XP_016883851.1:p.Gln1014Lys
XM_017028363.1:c.2686C>A	XP_016883852.1:p.Gln896Lys
XM_024452082.1:c.1924C>A	XP_024307850.1:p.Gln642Lys
XM_024452083.1:c.820C>A	XP_024307851.1:p.Gln274Lys
NM_006031.6:c.3040C>A MANE Select	NP_006022.3:p.Gln1014Lys
NM_001315529.2:c.2686C>A	NP_001302458.1:p.Gln896Lys