Canonical Allele Identifier: CA410569795

Gene: PCNT

Linked Data

• gnomAD v4: 21-46366964-T-C
• MyVariant Identifiers: chr21:g.47786879T>C (hg19) ; chr21:g.46366964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366964T>C , CM000683.2:g.46366964T>C	GRCh38
NC_000021.8:g.47786879T>C , CM000683.1:g.47786879T>C	GRCh37
NC_000021.7:g.46611307T>C	NCBI36
NG_008961.1:g.47844T>C
NG_008961.2:g.47843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1486T>C	ENSP00000511987.1:n.*1486T>C
ENST00000695525.1:n.3076T>C
ENST00000695558.1:c.2990T>C	ENSP00000512015.1:p.Phe997Ser
ENST00000703224.1:c.*2233T>C	ENSP00000515242.1:n.*2233T>C
ENST00000359568.10:c.2990T>C MANE Select	ENSP00000352572.5:p.Phe997Ser
ENST00000359568.9:c.2990T>C	ENSP00000352572.5:p.Phe997Ser
ENST00000480896.5:n.3259T>C
NM_001315529.1:c.2636T>C	NP_001302458.1:p.Phe879Ser
NM_006031.5:c.2990T>C	NP_006022.3:p.Phe997Ser
XM_005261124.3:c.2990T>C	XP_005261181.1:p.Phe997Ser
XM_011529593.1:c.3071T>C	XP_011527895.1:p.Phe1024Ser
XM_011529594.1:c.3071T>C	XP_011527896.1:p.Phe1024Ser
XM_005261124.5:c.2990T>C	XP_005261181.1:p.Phe997Ser
XM_011529594.3:c.3071T>C	XP_011527896.1:p.Phe1024Ser
XM_017028362.2:c.2990T>C	XP_016883851.1:p.Phe997Ser
XM_017028363.1:c.2636T>C	XP_016883852.1:p.Phe879Ser
XM_024452082.1:c.1874T>C	XP_024307850.1:p.Phe625Ser
XM_024452083.1:c.770T>C	XP_024307851.1:p.Phe257Ser
NM_006031.6:c.2990T>C MANE Select	NP_006022.3:p.Phe997Ser
NM_001315529.2:c.2636T>C	NP_001302458.1:p.Phe879Ser