Canonical Allele Identifier: CA6714638
Gene: POC1B HGNC NCBI
GALNT4 HGNC NCBI
POC1B-GALNT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3098178
ClinVar RCV Id: RCV004392563
dbSNP Id: rs533855790

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.89522895C>T , CM000674.2:g.89522895C>T GRCh38
NC_000012.11:g.89916672C>T , CM000674.1:g.89916672C>T GRCh37
NC_000012.10:g.88440803C>T NCBI36
NG_041783.1:g.8368G>A
NG_050753.1:g.6912G>A
NG_054725.1:g.8368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313546.8:c.100+2225G>A (POC1B) MANE Select ENSP00000323302.3:n.100+2225G>A
ENST00000529983.3:c.1655G>A (GALNT4) MANE Select ENSP00000436604.2:p.Arg552Gln
ENST00000313546.7:c.100+2225G>A (POC1B) ENSP00000323302.3:n.100+2225G>A
ENST00000393179.8:c.-119+2225G>A (POC1B) ENSP00000376877.4:n.-119+2225G>A
ENST00000529983.2:c.1655G>A (GALNT4) ENSP00000436604.2:p.Arg552Gln
ENST00000539190.6:n.198+2225G>A (POC1B)
ENST00000546830.1:c.100+2225G>A (POC1B) ENSP00000449256.1:n.100+2225G>A
ENST00000547274.5:c.100+2225G>A (POC1B) ENSP00000449648.1:n.100+2225G>A
ENST00000547474.1:c.*750G>A (POC1B-GALNT4) ENSP00000447754.1:n.*750G>A
ENST00000547496.5:c.100+2225G>A (POC1B) ENSP00000447437.1:n.100+2225G>A
ENST00000548715.5:c.100+2225G>A (POC1B) ENSP00000449945.1:n.100+2225G>A
ENST00000548729.5:c.1646G>A (POC1B-GALNT4) ENSP00000447852.1:p.Arg549Gln
ENST00000549035.1:c.-27+2225G>A (POC1B) ENSP00000447916.1:n.-27+2225G>A
ENST00000549504.1:c.-119+2225G>A (POC1B) ENSP00000450118.1:n.-119+2225G>A
ENST00000552563.1:n.296+2225G>A (POC1B)
NM_001199777.1:c.-27+2225G>A (POC1B) NP_001186706.1:n.-27+2225G>A
NM_001199781.1:c.1646G>A (POC1B-GALNT4) NP_001186710.1:p.Arg549Gln
NM_001199782.1:c.1139G>A (POC1B-GALNT4) NP_001186711.1:p.Arg380Gln
NM_003774.4:c.1655G>A (GALNT4) NP_003765.2:p.Arg552Gln
NM_172240.2:c.100+2225G>A (POC1B) NP_758440.1:n.100+2225G>A
NR_037659.1:n.467+2225G>A (POC1B)
NR_037660.1:n.448+2225G>A (POC1B)
NM_003774.5:c.1655G>A (GALNT4) MANE Select NP_003765.2:p.Arg552Gln
NM_172240.3:c.100+2225G>A (POC1B) MANE Select NP_758440.1:n.100+2225G>A
NM_001199777.2:c.-27+2225G>A (POC1B) NP_001186706.1:n.-27+2225G>A
NM_001199781.2:c.1646G>A (POC1B-GALNT4) NP_001186710.1:p.Arg549Gln
NR_037659.2:n.252+2225G>A (POC1B)
NR_037660.2:n.311+2225G>A (POC1B)