Canonical Allele Identifier: CA512734500

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786991G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367076G>A , CM000683.2:g.46367076G>A	GRCh38
NC_000021.8:g.47786991G>A , CM000683.1:g.47786991G>A	GRCh37
NC_000021.7:g.46611419G>A	NCBI36
NG_008961.1:g.47956G>A
NG_008961.2:g.47955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1598G>A	ENSP00000511987.1:n.*1598G>A
ENST00000695525.1:n.3188G>A
ENST00000695558.1:c.3102G>A	ENSP00000512015.1:p.Leu1034=
ENST00000703224.1:c.*2345G>A	ENSP00000515242.1:n.*2345G>A
ENST00000359568.10:c.3102G>A MANE Select	ENSP00000352572.5:p.Leu1034=
ENST00000359568.9:c.3102G>A	ENSP00000352572.5:p.Leu1034=
ENST00000480896.5:n.3371G>A
NM_001315529.1:c.2748G>A	NP_001302458.1:p.Leu916=
NM_006031.5:c.3102G>A	NP_006022.3:p.Leu1034=
XM_005261124.3:c.3102G>A	XP_005261181.1:p.Leu1034=
XM_011529593.1:c.3183G>A	XP_011527895.1:p.Leu1061=
XM_011529594.1:c.3183G>A	XP_011527896.1:p.Leu1061=
XM_005261124.5:c.3102G>A	XP_005261181.1:p.Leu1034=
XM_011529594.3:c.3183G>A	XP_011527896.1:p.Leu1061=
XM_017028362.2:c.3102G>A	XP_016883851.1:p.Leu1034=
XM_017028363.1:c.2748G>A	XP_016883852.1:p.Leu916=
XM_024452082.1:c.1986G>A	XP_024307850.1:p.Leu662=
XM_024452083.1:c.882G>A	XP_024307851.1:p.Leu294=
NM_006031.6:c.3102G>A MANE Select	NP_006022.3:p.Leu1034=
NM_001315529.2:c.2748G>A	NP_001302458.1:p.Leu916=