Canonical Allele Identifier: CA410555885

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831659T>C (hg19) ; chr21:g.46411745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411745T>C , CM000683.2:g.46411745T>C	GRCh38
NC_000021.8:g.47831659T>C , CM000683.1:g.47831659T>C	GRCh37
NC_000021.7:g.46656087T>C	NCBI36
NG_008961.1:g.92624T>C
NG_008961.2:g.92624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.17T>C
ENST00000695558.1:c.5705T>C	ENSP00000512015.1:p.Leu1902Pro
ENST00000703224.1:c.*4915T>C	ENSP00000515242.1:n.*4915T>C
ENST00000359568.10:c.5672T>C MANE Select	ENSP00000352572.5:p.Leu1891Pro
ENST00000359568.9:c.5672T>C	ENSP00000352572.5:p.Leu1891Pro
ENST00000480896.5:n.5941T>C
NM_001315529.1:c.5318T>C	NP_001302458.1:p.Leu1773Pro
NM_006031.5:c.5672T>C	NP_006022.3:p.Leu1891Pro
XM_005261124.3:c.5705T>C	XP_005261181.1:p.Leu1902Pro
XM_011529593.1:c.5783T>C	XP_011527895.1:p.Leu1928Pro
XM_011529594.1:c.5753T>C	XP_011527896.1:p.Leu1918Pro
XM_005261124.5:c.5705T>C	XP_005261181.1:p.Leu1902Pro
XM_011529594.3:c.5753T>C	XP_011527896.1:p.Leu1918Pro
XM_017028362.2:c.5672T>C	XP_016883851.1:p.Leu1891Pro
XM_017028363.1:c.5351T>C	XP_016883852.1:p.Leu1784Pro
XM_024452082.1:c.4589T>C	XP_024307850.1:p.Leu1530Pro
XM_024452083.1:c.3485T>C	XP_024307851.1:p.Leu1162Pro
NM_006031.6:c.5672T>C MANE Select	NP_006022.3:p.Leu1891Pro
NM_001315529.2:c.5318T>C	NP_001302458.1:p.Leu1773Pro