Canonical Allele Identifier: CA410570221

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47786942A>T (hg19) ; chr21:g.46367027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367027A>T , CM000683.2:g.46367027A>T	GRCh38
NC_000021.8:g.47786942A>T , CM000683.1:g.47786942A>T	GRCh37
NC_000021.7:g.46611370A>T	NCBI36
NG_008961.1:g.47907A>T
NG_008961.2:g.47906A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1549A>T	ENSP00000511987.1:n.*1549A>T
ENST00000695525.1:n.3139A>T
ENST00000695558.1:c.3053A>T	ENSP00000512015.1:p.Lys1018Ile
ENST00000703224.1:c.*2296A>T	ENSP00000515242.1:n.*2296A>T
ENST00000359568.10:c.3053A>T MANE Select	ENSP00000352572.5:p.Lys1018Ile
ENST00000359568.9:c.3053A>T	ENSP00000352572.5:p.Lys1018Ile
ENST00000480896.5:n.3322A>T
NM_001315529.1:c.2699A>T	NP_001302458.1:p.Lys900Ile
NM_006031.5:c.3053A>T	NP_006022.3:p.Lys1018Ile
XM_005261124.3:c.3053A>T	XP_005261181.1:p.Lys1018Ile
XM_011529593.1:c.3134A>T	XP_011527895.1:p.Lys1045Ile
XM_011529594.1:c.3134A>T	XP_011527896.1:p.Lys1045Ile
XM_005261124.5:c.3053A>T	XP_005261181.1:p.Lys1018Ile
XM_011529594.3:c.3134A>T	XP_011527896.1:p.Lys1045Ile
XM_017028362.2:c.3053A>T	XP_016883851.1:p.Lys1018Ile
XM_017028363.1:c.2699A>T	XP_016883852.1:p.Lys900Ile
XM_024452082.1:c.1937A>T	XP_024307850.1:p.Lys646Ile
XM_024452083.1:c.833A>T	XP_024307851.1:p.Lys278Ile
NM_006031.6:c.3053A>T MANE Select	NP_006022.3:p.Lys1018Ile
NM_001315529.2:c.2699A>T	NP_001302458.1:p.Lys900Ile