Canonical Allele Identifier: CA410555848

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831658C>A (hg19) ; chr21:g.46411744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411744C>A , CM000683.2:g.46411744C>A	GRCh38
NC_000021.8:g.47831658C>A , CM000683.1:g.47831658C>A	GRCh37
NC_000021.7:g.46656086C>A	NCBI36
NG_008961.1:g.92623C>A
NG_008961.2:g.92623C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.16C>A
ENST00000695558.1:c.5704C>A	ENSP00000512015.1:p.Leu1902Met
ENST00000703224.1:c.*4914C>A	ENSP00000515242.1:n.*4914C>A
ENST00000359568.10:c.5671C>A MANE Select	ENSP00000352572.5:p.Leu1891Met
ENST00000359568.9:c.5671C>A	ENSP00000352572.5:p.Leu1891Met
ENST00000480896.5:n.5940C>A
NM_001315529.1:c.5317C>A	NP_001302458.1:p.Leu1773Met
NM_006031.5:c.5671C>A	NP_006022.3:p.Leu1891Met
XM_005261124.3:c.5704C>A	XP_005261181.1:p.Leu1902Met
XM_011529593.1:c.5782C>A	XP_011527895.1:p.Leu1928Met
XM_011529594.1:c.5752C>A	XP_011527896.1:p.Leu1918Met
XM_005261124.5:c.5704C>A	XP_005261181.1:p.Leu1902Met
XM_011529594.3:c.5752C>A	XP_011527896.1:p.Leu1918Met
XM_017028362.2:c.5671C>A	XP_016883851.1:p.Leu1891Met
XM_017028363.1:c.5350C>A	XP_016883852.1:p.Leu1784Met
XM_024452082.1:c.4588C>A	XP_024307850.1:p.Leu1530Met
XM_024452083.1:c.3484C>A	XP_024307851.1:p.Leu1162Met
NM_006031.6:c.5671C>A MANE Select	NP_006022.3:p.Leu1891Met
NM_001315529.2:c.5317C>A	NP_001302458.1:p.Leu1773Met