Canonical Allele Identifier: CA513174047

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831759G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411845G>C , CM000683.2:g.46411845G>C	GRCh38
NC_000021.8:g.47831759G>C , CM000683.1:g.47831759G>C	GRCh37
NC_000021.7:g.46656187G>C	NCBI36
NG_008961.1:g.92724G>C
NG_008961.2:g.92724G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.117G>C
ENST00000695558.1:c.5805G>C	ENSP00000512015.1:p.Ala1935=
ENST00000703224.1:c.*5015G>C	ENSP00000515242.1:n.*5015G>C
ENST00000359568.10:c.5772G>C MANE Select	ENSP00000352572.5:p.Ala1924=
ENST00000359568.9:c.5772G>C	ENSP00000352572.5:p.Ala1924=
ENST00000480896.5:n.6041G>C
NM_001315529.1:c.5418G>C	NP_001302458.1:p.Ala1806=
NM_006031.5:c.5772G>C	NP_006022.3:p.Ala1924=
XM_005261124.3:c.5805G>C	XP_005261181.1:p.Ala1935=
XM_011529593.1:c.5883G>C	XP_011527895.1:p.Ala1961=
XM_011529594.1:c.5853G>C	XP_011527896.1:p.Ala1951=
XM_005261124.5:c.5805G>C	XP_005261181.1:p.Ala1935=
XM_011529594.3:c.5853G>C	XP_011527896.1:p.Ala1951=
XM_017028362.2:c.5772G>C	XP_016883851.1:p.Ala1924=
XM_017028363.1:c.5451G>C	XP_016883852.1:p.Ala1817=
XM_024452082.1:c.4689G>C	XP_024307850.1:p.Ala1563=
XM_024452083.1:c.3585G>C	XP_024307851.1:p.Ala1195=
NM_006031.6:c.5772G>C MANE Select	NP_006022.3:p.Ala1924=
NM_001315529.2:c.5418G>C	NP_001302458.1:p.Ala1806=