Canonical Allele Identifier: CA410569785

Gene: PCNT

Linked Data

• dbSNP Id: rs2146925418
• gnomAD v3: 21-46366963-T-C
• gnomAD v4: 21-46366963-T-C
• MyVariant Identifiers: chr21:g.47786878T>C (hg19) ; chr21:g.46366963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366963T>C , CM000683.2:g.46366963T>C	GRCh38
NC_000021.8:g.47786878T>C , CM000683.1:g.47786878T>C	GRCh37
NC_000021.7:g.46611306T>C	NCBI36
NG_008961.1:g.47843T>C
NG_008961.2:g.47842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1485T>C	ENSP00000511987.1:n.*1485T>C
ENST00000695525.1:n.3075T>C
ENST00000695558.1:c.2989T>C	ENSP00000512015.1:p.Phe997Leu
ENST00000703224.1:c.*2232T>C	ENSP00000515242.1:n.*2232T>C
ENST00000359568.10:c.2989T>C MANE Select	ENSP00000352572.5:p.Phe997Leu
ENST00000359568.9:c.2989T>C	ENSP00000352572.5:p.Phe997Leu
ENST00000480896.5:n.3258T>C
NM_001315529.1:c.2635T>C	NP_001302458.1:p.Phe879Leu
NM_006031.5:c.2989T>C	NP_006022.3:p.Phe997Leu
XM_005261124.3:c.2989T>C	XP_005261181.1:p.Phe997Leu
XM_011529593.1:c.3070T>C	XP_011527895.1:p.Phe1024Leu
XM_011529594.1:c.3070T>C	XP_011527896.1:p.Phe1024Leu
XM_005261124.5:c.2989T>C	XP_005261181.1:p.Phe997Leu
XM_011529594.3:c.3070T>C	XP_011527896.1:p.Phe1024Leu
XM_017028362.2:c.2989T>C	XP_016883851.1:p.Phe997Leu
XM_017028363.1:c.2635T>C	XP_016883852.1:p.Phe879Leu
XM_024452082.1:c.1873T>C	XP_024307850.1:p.Phe625Leu
XM_024452083.1:c.769T>C	XP_024307851.1:p.Phe257Leu
NM_006031.6:c.2989T>C MANE Select	NP_006022.3:p.Phe997Leu
NM_001315529.2:c.2635T>C	NP_001302458.1:p.Phe879Leu