Canonical Allele Identifier: CA950300882

Gene: POC1B

Linked Data

• gnomAD v3: 12-89503534-C-G
• gnomAD v4: 12-89503534-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89503534C>G , CM000674.2:g.89503534C>G	GRCh38
NC_000012.11:g.89897311C>G , CM000674.1:g.89897311C>G	GRCh37
NC_000012.10:g.88421442C>G	NCBI36
NG_041783.1:g.27729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313546.8:c.101-6192G>C MANE Select	ENSP00000323302.3:n.101-6192G>C
ENST00000313546.7:c.101-6192G>C	ENSP00000323302.3:n.101-6192G>C
ENST00000393179.8:c.-118-11419G>C	ENSP00000376877.4:n.-118-11419G>C
ENST00000539190.6:n.199-6192G>C
ENST00000546830.1:c.101-6192G>C	ENSP00000449256.1:n.101-6192G>C
ENST00000547274.5:c.101-11419G>C	ENSP00000449648.1:n.101-11419G>C
ENST00000547496.5:c.101-11419G>C	ENSP00000447437.1:n.101-11419G>C
ENST00000548715.5:c.101-11419G>C	ENSP00000449945.1:n.101-11419G>C
ENST00000549035.1:c.-26-6192G>C	ENSP00000447916.1:n.-26-6192G>C
ENST00000549504.1:c.-118-11419G>C	ENSP00000450118.1:n.-118-11419G>C
ENST00000552563.1:n.297-11419G>C
NM_001199777.1:c.-26-6192G>C	NP_001186706.1:n.-26-6192G>C
NM_172240.2:c.101-6192G>C	NP_758440.1:n.101-6192G>C
NR_037659.1:n.468-11419G>C
NR_037660.1:n.449-11419G>C
NM_172240.3:c.101-6192G>C MANE Select	NP_758440.1:n.101-6192G>C
NM_001199777.2:c.-26-6192G>C	NP_001186706.1:n.-26-6192G>C
NR_037659.2:n.253-11419G>C
NR_037660.2:n.312-11419G>C