Canonical Allele Identifier: CA410570248

Gene: PCNT

Linked Data

• ClinVar Variation Id: 436261
• ClinVar RCV Id: RCV000502434
• dbSNP Id: rs1555962301
• MyVariant Identifiers: chr21:g.47786947A>T (hg19) ; chr21:g.46367032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367032A>T , CM000683.2:g.46367032A>T	GRCh38
NC_000021.8:g.47786947A>T , CM000683.1:g.47786947A>T	GRCh37
NC_000021.7:g.46611375A>T	NCBI36
NG_008961.1:g.47912A>T
NG_008961.2:g.47911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1554A>T	ENSP00000511987.1:n.*1554A>T
ENST00000695525.1:n.3144A>T
ENST00000695558.1:c.3058A>T	ENSP00000512015.1:p.Lys1020Ter
ENST00000703224.1:c.*2301A>T	ENSP00000515242.1:n.*2301A>T
ENST00000359568.10:c.3058A>T MANE Select	ENSP00000352572.5:p.Lys1020Ter
ENST00000359568.9:c.3058A>T	ENSP00000352572.5:p.Lys1020Ter
ENST00000480896.5:n.3327A>T
NM_001315529.1:c.2704A>T	NP_001302458.1:p.Lys902Ter
NM_006031.5:c.3058A>T	NP_006022.3:p.Lys1020Ter
XM_005261124.3:c.3058A>T	XP_005261181.1:p.Lys1020Ter
XM_011529593.1:c.3139A>T	XP_011527895.1:p.Lys1047Ter
XM_011529594.1:c.3139A>T	XP_011527896.1:p.Lys1047Ter
XM_005261124.5:c.3058A>T	XP_005261181.1:p.Lys1020Ter
XM_011529594.3:c.3139A>T	XP_011527896.1:p.Lys1047Ter
XM_017028362.2:c.3058A>T	XP_016883851.1:p.Lys1020Ter
XM_017028363.1:c.2704A>T	XP_016883852.1:p.Lys902Ter
XM_024452082.1:c.1942A>T	XP_024307850.1:p.Lys648Ter
XM_024452083.1:c.838A>T	XP_024307851.1:p.Lys280Ter
NM_006031.6:c.3058A>T MANE Select	NP_006022.3:p.Lys1020Ter
NM_001315529.2:c.2704A>T	NP_001302458.1:p.Lys902Ter