Canonical Allele Identifier: CA410574672

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47855862C>A (hg19) ; chr21:g.46435949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435949C>A , CM000683.2:g.46435949C>A	GRCh38
NC_000021.8:g.47855862C>A , CM000683.1:g.47855862C>A	GRCh37
NC_000021.7:g.46680290C>A	NCBI36
NG_008961.1:g.116827C>A
NG_008961.2:g.116828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1379C>A
ENST00000695527.1:n.3142C>A
ENST00000695528.1:c.2830C>A	ENSP00000511990.1:p.Gln944Lys
ENST00000695529.1:n.2593C>A
ENST00000695530.1:c.1379C>A
ENST00000695531.1:n.2399C>A
ENST00000695532.1:n.2399C>A
ENST00000695533.1:n.1467C>A
ENST00000695534.1:n.1191C>A
ENST00000695535.1:n.272C>A
ENST00000695558.1:c.8830C>A	ENSP00000512015.1:p.Gln2944Lys
ENST00000703224.1:c.*8040C>A	ENSP00000515242.1:n.*8040C>A
ENST00000703226.1:n.1467C>A
ENST00000359568.10:c.8797C>A MANE Select	ENSP00000352572.5:p.Gln2933Lys
ENST00000359568.9:c.8797C>A	ENSP00000352572.5:p.Gln2933Lys
ENST00000480896.5:n.8829C>A
NM_001315529.1:c.8206C>A	NP_001302458.1:p.Gln2736Lys
NM_006031.5:c.8797C>A	NP_006022.3:p.Gln2933Lys
XM_005261124.3:c.8830C>A	XP_005261181.1:p.Gln2944Lys
XM_011529593.1:c.8908C>A	XP_011527895.1:p.Gln2970Lys
XM_011529594.1:c.8878C>A	XP_011527896.1:p.Gln2960Lys
XM_005261124.5:c.8830C>A	XP_005261181.1:p.Gln2944Lys
XM_011529594.3:c.8878C>A	XP_011527896.1:p.Gln2960Lys
XM_017028362.2:c.8560C>A	XP_016883851.1:p.Gln2854Lys
XM_017028363.1:c.8476C>A	XP_016883852.1:p.Gln2826Lys
XM_024452082.1:c.7714C>A	XP_024307850.1:p.Gln2572Lys
XM_024452083.1:c.6610C>A	XP_024307851.1:p.Gln2204Lys
NM_006031.6:c.8797C>A MANE Select	NP_006022.3:p.Gln2933Lys
NM_001315529.2:c.8206C>A	NP_001302458.1:p.Gln2736Lys