Canonical Allele Identifier: CA410570018

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786909T>A (hg19) ; chr21:g.46366994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366994T>A , CM000683.2:g.46366994T>A	GRCh38
NC_000021.8:g.47786909T>A , CM000683.1:g.47786909T>A	GRCh37
NC_000021.7:g.46611337T>A	NCBI36
NG_008961.1:g.47874T>A
NG_008961.2:g.47873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1516T>A	ENSP00000511987.1:n.*1516T>A
ENST00000695525.1:n.3106T>A
ENST00000695558.1:c.3020T>A	ENSP00000512015.1:p.Leu1007His
ENST00000703224.1:c.*2263T>A	ENSP00000515242.1:n.*2263T>A
ENST00000359568.10:c.3020T>A MANE Select	ENSP00000352572.5:p.Leu1007His
ENST00000359568.9:c.3020T>A	ENSP00000352572.5:p.Leu1007His
ENST00000480896.5:n.3289T>A
NM_001315529.1:c.2666T>A	NP_001302458.1:p.Leu889His
NM_006031.5:c.3020T>A	NP_006022.3:p.Leu1007His
XM_005261124.3:c.3020T>A	XP_005261181.1:p.Leu1007His
XM_011529593.1:c.3101T>A	XP_011527895.1:p.Leu1034His
XM_011529594.1:c.3101T>A	XP_011527896.1:p.Leu1034His
XM_005261124.5:c.3020T>A	XP_005261181.1:p.Leu1007His
XM_011529594.3:c.3101T>A	XP_011527896.1:p.Leu1034His
XM_017028362.2:c.3020T>A	XP_016883851.1:p.Leu1007His
XM_017028363.1:c.2666T>A	XP_016883852.1:p.Leu889His
XM_024452082.1:c.1904T>A	XP_024307850.1:p.Leu635His
XM_024452083.1:c.800T>A	XP_024307851.1:p.Leu267His
NM_006031.6:c.3020T>A MANE Select	NP_006022.3:p.Leu1007His
NM_001315529.2:c.2666T>A	NP_001302458.1:p.Leu889His