Canonical Allele Identifier: CA410555823

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831657G>C (hg19) ; chr21:g.46411743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411743G>C , CM000683.2:g.46411743G>C	GRCh38
NC_000021.8:g.47831657G>C , CM000683.1:g.47831657G>C	GRCh37
NC_000021.7:g.46656085G>C	NCBI36
NG_008961.1:g.92622G>C
NG_008961.2:g.92622G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.15G>C
ENST00000695558.1:c.5703G>C	ENSP00000512015.1:p.Glu1901Asp
ENST00000703224.1:c.*4913G>C	ENSP00000515242.1:n.*4913G>C
ENST00000359568.10:c.5670G>C MANE Select	ENSP00000352572.5:p.Glu1890Asp
ENST00000359568.9:c.5670G>C	ENSP00000352572.5:p.Glu1890Asp
ENST00000480896.5:n.5939G>C
NM_001315529.1:c.5316G>C	NP_001302458.1:p.Glu1772Asp
NM_006031.5:c.5670G>C	NP_006022.3:p.Glu1890Asp
XM_005261124.3:c.5703G>C	XP_005261181.1:p.Glu1901Asp
XM_011529593.1:c.5781G>C	XP_011527895.1:p.Glu1927Asp
XM_011529594.1:c.5751G>C	XP_011527896.1:p.Glu1917Asp
XM_005261124.5:c.5703G>C	XP_005261181.1:p.Glu1901Asp
XM_011529594.3:c.5751G>C	XP_011527896.1:p.Glu1917Asp
XM_017028362.2:c.5670G>C	XP_016883851.1:p.Glu1890Asp
XM_017028363.1:c.5349G>C	XP_016883852.1:p.Glu1783Asp
XM_024452082.1:c.4587G>C	XP_024307850.1:p.Glu1529Asp
XM_024452083.1:c.3483G>C	XP_024307851.1:p.Glu1161Asp
NM_006031.6:c.5670G>C MANE Select	NP_006022.3:p.Glu1890Asp
NM_001315529.2:c.5316G>C	NP_001302458.1:p.Glu1772Asp