Canonical Allele Identifier: CA410574581

Gene: PCNT

Linked Data

• gnomAD v4: 21-46435927-G-T
• MyVariant Identifiers: chr21:g.47855840G>T (hg19) ; chr21:g.46435927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435927G>T , CM000683.2:g.46435927G>T	GRCh38
NC_000021.8:g.47855840G>T , CM000683.1:g.47855840G>T	GRCh37
NC_000021.7:g.46680268G>T	NCBI36
NG_008961.1:g.116805G>T
NG_008961.2:g.116806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1357G>T
ENST00000695527.1:n.3120G>T
ENST00000695528.1:c.2808G>T	ENSP00000511990.1:p.Gln936His
ENST00000695529.1:n.2571G>T
ENST00000695530.1:c.1357G>T
ENST00000695531.1:n.2377G>T
ENST00000695532.1:n.2377G>T
ENST00000695533.1:n.1445G>T
ENST00000695534.1:n.1169G>T
ENST00000695535.1:n.250G>T
ENST00000695558.1:c.8808G>T	ENSP00000512015.1:p.Gln2936His
ENST00000703224.1:c.*8018G>T	ENSP00000515242.1:n.*8018G>T
ENST00000703226.1:n.1445G>T
ENST00000359568.10:c.8775G>T MANE Select	ENSP00000352572.5:p.Gln2925His
ENST00000359568.9:c.8775G>T	ENSP00000352572.5:p.Gln2925His
ENST00000480896.5:n.8807G>T
NM_001315529.1:c.8184G>T	NP_001302458.1:p.Gln2728His
NM_006031.5:c.8775G>T	NP_006022.3:p.Gln2925His
XM_005261124.3:c.8808G>T	XP_005261181.1:p.Gln2936His
XM_011529593.1:c.8886G>T	XP_011527895.1:p.Gln2962His
XM_011529594.1:c.8856G>T	XP_011527896.1:p.Gln2952His
XM_005261124.5:c.8808G>T	XP_005261181.1:p.Gln2936His
XM_011529594.3:c.8856G>T	XP_011527896.1:p.Gln2952His
XM_017028362.2:c.8538G>T	XP_016883851.1:p.Gln2846His
XM_017028363.1:c.8454G>T	XP_016883852.1:p.Gln2818His
XM_024452082.1:c.7692G>T	XP_024307850.1:p.Gln2564His
XM_024452083.1:c.6588G>T	XP_024307851.1:p.Gln2196His
NM_006031.6:c.8775G>T MANE Select	NP_006022.3:p.Gln2925His
NM_001315529.2:c.8184G>T	NP_001302458.1:p.Gln2728His