Canonical Allele Identifier: CA410574812

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47855885C>G (hg19) ; chr21:g.46435972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435972C>G , CM000683.2:g.46435972C>G	GRCh38
NC_000021.8:g.47855885C>G , CM000683.1:g.47855885C>G	GRCh37
NC_000021.7:g.46680313C>G	NCBI36
NG_008961.1:g.116850C>G
NG_008961.2:g.116851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1402C>G
ENST00000695527.1:n.3165C>G
ENST00000695528.1:c.2853C>G	ENSP00000511990.1:p.Asp951Glu
ENST00000695529.1:n.2616C>G
ENST00000695530.1:c.1402C>G
ENST00000695531.1:n.2422C>G
ENST00000695532.1:n.2422C>G
ENST00000695533.1:n.1490C>G
ENST00000695534.1:n.1214C>G
ENST00000695535.1:n.295C>G
ENST00000695558.1:c.8853C>G	ENSP00000512015.1:p.Asp2951Glu
ENST00000703224.1:c.*8063C>G	ENSP00000515242.1:n.*8063C>G
ENST00000703226.1:n.1490C>G
ENST00000359568.10:c.8820C>G MANE Select	ENSP00000352572.5:p.Asp2940Glu
ENST00000359568.9:c.8820C>G	ENSP00000352572.5:p.Asp2940Glu
ENST00000480896.5:n.8852C>G
NM_001315529.1:c.8229C>G	NP_001302458.1:p.Asp2743Glu
NM_006031.5:c.8820C>G	NP_006022.3:p.Asp2940Glu
XM_005261124.3:c.8853C>G	XP_005261181.1:p.Asp2951Glu
XM_011529593.1:c.8931C>G	XP_011527895.1:p.Asp2977Glu
XM_011529594.1:c.8901C>G	XP_011527896.1:p.Asp2967Glu
XM_005261124.5:c.8853C>G	XP_005261181.1:p.Asp2951Glu
XM_011529594.3:c.8901C>G	XP_011527896.1:p.Asp2967Glu
XM_017028362.2:c.8583C>G	XP_016883851.1:p.Asp2861Glu
XM_017028363.1:c.8499C>G	XP_016883852.1:p.Asp2833Glu
XM_024452082.1:c.7737C>G	XP_024307850.1:p.Asp2579Glu
XM_024452083.1:c.6633C>G	XP_024307851.1:p.Asp2211Glu
NM_006031.6:c.8820C>G MANE Select	NP_006022.3:p.Asp2940Glu
NM_001315529.2:c.8229C>G	NP_001302458.1:p.Asp2743Glu