Canonical Allele Identifier: CA513174317

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411744-C-T
• MyVariant Identifiers: chr21:g.47831658C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.16C>T
ENST00000695558.1:c.5704C>T	ENSP00000512015.1:p.Leu1902=
ENST00000703224.1:c.*4914C>T	ENSP00000515242.1:n.*4914C>T
ENST00000359568.10:c.5671C>T MANE Select	ENSP00000352572.5:p.Leu1891=
ENST00000359568.9:c.5671C>T	ENSP00000352572.5:p.Leu1891=
ENST00000480896.5:n.5940C>T
NM_001315529.1:c.5317C>T	NP_001302458.1:p.Leu1773=
NM_006031.5:c.5671C>T	NP_006022.3:p.Leu1891=
XM_005261124.3:c.5704C>T	XP_005261181.1:p.Leu1902=
XM_011529593.1:c.5782C>T	XP_011527895.1:p.Leu1928=
XM_011529594.1:c.5752C>T	XP_011527896.1:p.Leu1918=
XM_005261124.5:c.5704C>T	XP_005261181.1:p.Leu1902=
XM_011529594.3:c.5752C>T	XP_011527896.1:p.Leu1918=
XM_017028362.2:c.5671C>T	XP_016883851.1:p.Leu1891=
XM_017028363.1:c.5350C>T	XP_016883852.1:p.Leu1784=
XM_024452082.1:c.4588C>T	XP_024307850.1:p.Leu1530=
XM_024452083.1:c.3484C>T	XP_024307851.1:p.Leu1162=
NM_006031.6:c.5671C>T MANE Select	NP_006022.3:p.Leu1891=
NM_001315529.2:c.5317C>T	NP_001302458.1:p.Leu1773=