Canonical Allele Identifier: CA410557101

Gene: PCNT

Linked Data

• MyVariant Identifiers: chr21:g.47831813G>T (hg19) ; chr21:g.46411899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411899G>T , CM000683.2:g.46411899G>T	GRCh38
NC_000021.8:g.47831813G>T , CM000683.1:g.47831813G>T	GRCh37
NC_000021.7:g.46656241G>T	NCBI36
NG_008961.1:g.92778G>T
NG_008961.2:g.92778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.171G>T
ENST00000695558.1:c.5859G>T	ENSP00000512015.1:p.Arg1953Ser
ENST00000703224.1:c.*5069G>T	ENSP00000515242.1:n.*5069G>T
ENST00000359568.10:c.5826G>T MANE Select	ENSP00000352572.5:p.Arg1942Ser
ENST00000359568.9:c.5826G>T	ENSP00000352572.5:p.Arg1942Ser
ENST00000480896.5:n.6095G>T
NM_001315529.1:c.5472G>T	NP_001302458.1:p.Arg1824Ser
NM_006031.5:c.5826G>T	NP_006022.3:p.Arg1942Ser
XM_005261124.3:c.5859G>T	XP_005261181.1:p.Arg1953Ser
XM_011529593.1:c.5937G>T	XP_011527895.1:p.Arg1979Ser
XM_011529594.1:c.5907G>T	XP_011527896.1:p.Arg1969Ser
XM_005261124.5:c.5859G>T	XP_005261181.1:p.Arg1953Ser
XM_011529594.3:c.5907G>T	XP_011527896.1:p.Arg1969Ser
XM_017028362.2:c.5826G>T	XP_016883851.1:p.Arg1942Ser
XM_017028363.1:c.5505G>T	XP_016883852.1:p.Arg1835Ser
XM_024452082.1:c.4743G>T	XP_024307850.1:p.Arg1581Ser
XM_024452083.1:c.3639G>T	XP_024307851.1:p.Arg1213Ser
NM_006031.6:c.5826G>T MANE Select	NP_006022.3:p.Arg1942Ser
NM_001315529.2:c.5472G>T	NP_001302458.1:p.Arg1824Ser