Canonical Allele Identifier: CA279865

Gene: POC1B GALNT4 POC1B-GALNT4

Linked Data

• ClinVar Variation Id: 208386
• ClinVar RCV Id: RCV000202342
• dbSNP Id: rs863223348
• gnomAD v2: 12-89917133-G-A
• gnomAD v4: 12-89523356-G-A
• MyVariant Identifiers: chr12:g.89917133G>A (hg19) ; chr12:g.89523356G>A (hg38)
• PubMed: PMID:26508570

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89523356G>A , CM000674.2:g.89523356G>A	GRCh38
NC_000012.11:g.89917133G>A , CM000674.1:g.89917133G>A	GRCh37
NC_000012.10:g.88441264G>A	NCBI36
NG_041783.1:g.7907C>T
NG_050753.1:g.6451C>T
NG_054725.1:g.7907C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313546.8:c.100+1764C>T (POC1B) MANE Select	ENSP00000323302.3:n.100+1764C>T
ENST00000529983.3:c.1194C>T (GALNT4) MANE Select	ENSP00000436604.2:p.Asn398=
ENST00000313546.7:c.100+1764C>T (POC1B)	ENSP00000323302.3:n.100+1764C>T
ENST00000393179.8:c.-119+1764C>T (POC1B)	ENSP00000376877.4:n.-119+1764C>T
ENST00000529983.2:c.1194C>T (GALNT4)	ENSP00000436604.2:p.Asn398=
ENST00000539190.6:n.198+1764C>T (POC1B)
ENST00000546830.1:c.100+1764C>T (POC1B)	ENSP00000449256.1:n.100+1764C>T
ENST00000547274.5:c.100+1764C>T (POC1B)	ENSP00000449648.1:n.100+1764C>T
ENST00000547474.1:c.*289C>T (POC1B-GALNT4)	ENSP00000447754.1:n.*289C>T
ENST00000547496.5:c.100+1764C>T (POC1B)	ENSP00000447437.1:n.100+1764C>T
ENST00000548715.5:c.100+1764C>T (POC1B)	ENSP00000449945.1:n.100+1764C>T
ENST00000548729.5:c.1185C>T (POC1B-GALNT4)	ENSP00000447852.1:p.Asn395=
ENST00000549035.1:c.-27+1764C>T (POC1B)	ENSP00000447916.1:n.-27+1764C>T
ENST00000549504.1:c.-119+1764C>T (POC1B)	ENSP00000450118.1:n.-119+1764C>T
ENST00000552563.1:n.296+1764C>T (POC1B)
NM_001199777.1:c.-27+1764C>T (POC1B)	NP_001186706.1:n.-27+1764C>T
NM_001199781.1:c.1185C>T (POC1B-GALNT4)	NP_001186710.1:p.Asn395=
NM_001199782.1:c.678C>T (POC1B-GALNT4)	NP_001186711.1:p.Asn226=
NM_003774.4:c.1194C>T (GALNT4)	NP_003765.2:p.Asn398=
NM_172240.2:c.100+1764C>T (POC1B)	NP_758440.1:n.100+1764C>T
NR_037659.1:n.467+1764C>T (POC1B)
NR_037660.1:n.448+1764C>T (POC1B)
NM_003774.5:c.1194C>T (GALNT4) MANE Select	NP_003765.2:p.Asn398=
NM_172240.3:c.100+1764C>T (POC1B) MANE Select	NP_758440.1:n.100+1764C>T
NM_001199777.2:c.-27+1764C>T (POC1B)	NP_001186706.1:n.-27+1764C>T
NM_001199781.2:c.1185C>T (POC1B-GALNT4)	NP_001186710.1:p.Asn395=
NR_037659.2:n.252+1764C>T (POC1B)
NR_037660.2:n.311+1764C>T (POC1B)