Canonical Allele Identifier: CA410557144

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411905-G-T
• MyVariant Identifiers: chr21:g.47831819G>T (hg19) ; chr21:g.46411905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411905G>T , CM000683.2:g.46411905G>T	GRCh38
NC_000021.8:g.47831819G>T , CM000683.1:g.47831819G>T	GRCh37
NC_000021.7:g.46656247G>T	NCBI36
NG_008961.1:g.92784G>T
NG_008961.2:g.92784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.177G>T
ENST00000695528.1:c.6G>T	ENSP00000511990.1:p.Gln2His
ENST00000695529.1:n.6G>T
ENST00000695558.1:c.5865G>T	ENSP00000512015.1:p.Gln1955His
ENST00000703224.1:c.*5075G>T	ENSP00000515242.1:n.*5075G>T
ENST00000359568.10:c.5832G>T MANE Select	ENSP00000352572.5:p.Gln1944His
ENST00000359568.9:c.5832G>T	ENSP00000352572.5:p.Gln1944His
ENST00000480896.5:n.6101G>T
NM_001315529.1:c.5478G>T	NP_001302458.1:p.Gln1826His
NM_006031.5:c.5832G>T	NP_006022.3:p.Gln1944His
XM_005261124.3:c.5865G>T	XP_005261181.1:p.Gln1955His
XM_011529593.1:c.5943G>T	XP_011527895.1:p.Gln1981His
XM_011529594.1:c.5913G>T	XP_011527896.1:p.Gln1971His
XM_005261124.5:c.5865G>T	XP_005261181.1:p.Gln1955His
XM_011529594.3:c.5913G>T	XP_011527896.1:p.Gln1971His
XM_017028362.2:c.5832G>T	XP_016883851.1:p.Gln1944His
XM_017028363.1:c.5511G>T	XP_016883852.1:p.Gln1837His
XM_024452082.1:c.4749G>T	XP_024307850.1:p.Gln1583His
XM_024452083.1:c.3645G>T	XP_024307851.1:p.Gln1215His
NM_006031.6:c.5832G>T MANE Select	NP_006022.3:p.Gln1944His
NM_001315529.2:c.5478G>T	NP_001302458.1:p.Gln1826His