Canonical Allele Identifier: CA410557324

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831849A>C (hg19) ; chr21:g.46411935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411935A>C , CM000683.2:g.46411935A>C	GRCh38
NC_000021.8:g.47831849A>C , CM000683.1:g.47831849A>C	GRCh37
NC_000021.7:g.46656277A>C	NCBI36
NG_008961.1:g.92814A>C
NG_008961.2:g.92814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.207A>C
ENST00000695528.1:c.36A>C	ENSP00000511990.1:p.Arg12Ser
ENST00000695529.1:n.36A>C
ENST00000695558.1:c.5895A>C	ENSP00000512015.1:p.Arg1965Ser
ENST00000703224.1:c.*5105A>C	ENSP00000515242.1:n.*5105A>C
ENST00000359568.10:c.5862A>C MANE Select	ENSP00000352572.5:p.Arg1954Ser
ENST00000359568.9:c.5862A>C	ENSP00000352572.5:p.Arg1954Ser
ENST00000480896.5:n.6131A>C
NM_001315529.1:c.5508A>C	NP_001302458.1:p.Arg1836Ser
NM_006031.5:c.5862A>C	NP_006022.3:p.Arg1954Ser
XM_005261124.3:c.5895A>C	XP_005261181.1:p.Arg1965Ser
XM_011529593.1:c.5973A>C	XP_011527895.1:p.Arg1991Ser
XM_011529594.1:c.5943A>C	XP_011527896.1:p.Arg1981Ser
XM_005261124.5:c.5895A>C	XP_005261181.1:p.Arg1965Ser
XM_011529594.3:c.5943A>C	XP_011527896.1:p.Arg1981Ser
XM_017028362.2:c.5862A>C	XP_016883851.1:p.Arg1954Ser
XM_017028363.1:c.5541A>C	XP_016883852.1:p.Arg1847Ser
XM_024452082.1:c.4779A>C	XP_024307850.1:p.Arg1593Ser
XM_024452083.1:c.3675A>C	XP_024307851.1:p.Arg1225Ser
NM_006031.6:c.5862A>C MANE Select	NP_006022.3:p.Arg1954Ser
NM_001315529.2:c.5508A>C	NP_001302458.1:p.Arg1836Ser