Canonical Allele Identifier: CA385995721

Gene: POC1B

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89470369C>G , CM000674.2:g.89470369C>G	GRCh38
NC_000012.11:g.89864146C>G , CM000674.1:g.89864146C>G	GRCh37
NC_000012.10:g.88388277C>G	NCBI36
NG_041783.1:g.60894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313546.8:c.802G>C MANE Select	ENSP00000323302.3:p.Gly268Arg
ENST00000313546.7:c.802G>C	ENSP00000323302.3:p.Gly268Arg
ENST00000393179.8:c.412G>C	ENSP00000376877.4:p.Gly138Arg
ENST00000539190.6:n.900G>C
ENST00000547496.5:c.*477G>C	ENSP00000447437.1:n.*477G>C
ENST00000548715.5:c.*128-3447G>C	ENSP00000449945.1:n.*128-3447G>C
ENST00000549035.1:c.676G>C	ENSP00000447916.1:p.Gly226Arg
ENST00000549304.5:n.465G>C
ENST00000549504.1:c.63-2684G>C	ENSP00000450118.1:n.63-2684G>C
ENST00000551819.5:n.37G>C
ENST00000552563.1:n.477-2684G>C
NM_001199777.1:c.676G>C	NP_001186706.1:p.Gly226Arg
NM_172240.2:c.802G>C	NP_758440.1:p.Gly268Arg
NR_037659.1:n.997G>C
NR_037660.1:n.978G>C
NM_172240.3:c.802G>C MANE Select	NP_758440.1:p.Gly268Arg
NM_001199777.2:c.676G>C	NP_001186706.1:p.Gly226Arg
NR_037659.2:n.782G>C
NR_037660.2:n.841G>C