Canonical Allele Identifier: CA410557360

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411940-C-T
• MyVariant Identifiers: chr21:g.47831854C>T (hg19) ; chr21:g.46411940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411940C>T , CM000683.2:g.46411940C>T	GRCh38
NC_000021.8:g.47831854C>T , CM000683.1:g.47831854C>T	GRCh37
NC_000021.7:g.46656282C>T	NCBI36
NG_008961.1:g.92819C>T
NG_008961.2:g.92819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.212C>T
ENST00000695528.1:c.41C>T	ENSP00000511990.1:p.Thr14Ile
ENST00000695529.1:n.41C>T
ENST00000695558.1:c.5900C>T	ENSP00000512015.1:p.Thr1967Ile
ENST00000703224.1:c.*5110C>T	ENSP00000515242.1:n.*5110C>T
ENST00000359568.10:c.5867C>T MANE Select	ENSP00000352572.5:p.Thr1956Ile
ENST00000359568.9:c.5867C>T	ENSP00000352572.5:p.Thr1956Ile
ENST00000480896.5:n.6136C>T
NM_001315529.1:c.5513C>T	NP_001302458.1:p.Thr1838Ile
NM_006031.5:c.5867C>T	NP_006022.3:p.Thr1956Ile
XM_005261124.3:c.5900C>T	XP_005261181.1:p.Thr1967Ile
XM_011529593.1:c.5978C>T	XP_011527895.1:p.Thr1993Ile
XM_011529594.1:c.5948C>T	XP_011527896.1:p.Thr1983Ile
XM_005261124.5:c.5900C>T	XP_005261181.1:p.Thr1967Ile
XM_011529594.3:c.5948C>T	XP_011527896.1:p.Thr1983Ile
XM_017028362.2:c.5867C>T	XP_016883851.1:p.Thr1956Ile
XM_017028363.1:c.5546C>T	XP_016883852.1:p.Thr1849Ile
XM_024452082.1:c.4784C>T	XP_024307850.1:p.Thr1595Ile
XM_024452083.1:c.3680C>T	XP_024307851.1:p.Thr1227Ile
NM_006031.6:c.5867C>T MANE Select	NP_006022.3:p.Thr1956Ile
NM_001315529.2:c.5513C>T	NP_001302458.1:p.Thr1838Ile