Canonical Allele Identifier: CA385985019

Gene: POC1B

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89425177A>G , CM000674.2:g.89425177A>G	GRCh38
NC_000012.11:g.89818954A>G , CM000674.1:g.89818954A>G	GRCh37
NC_000012.10:g.88343085A>G	NCBI36
NG_041783.1:g.106086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313546.8:c.1316T>C MANE Select	ENSP00000323302.3:p.Leu439Pro
ENST00000313546.7:c.1316T>C	ENSP00000323302.3:p.Leu439Pro
ENST00000393179.8:c.926T>C	ENSP00000376877.4:p.Leu309Pro
ENST00000546740.5:n.424T>C
ENST00000547496.5:c.*1014T>C	ENSP00000447437.1:n.*1014T>C
ENST00000548715.5:c.*564T>C	ENSP00000449945.1:n.*564T>C
ENST00000549035.1:c.1190T>C	ENSP00000447916.1:p.Leu397Pro
ENST00000549591.1:n.4284T>C
NM_001199777.1:c.1190T>C	NP_001186706.1:p.Leu397Pro
NM_172240.2:c.1316T>C	NP_758440.1:p.Leu439Pro
NR_037659.1:n.1534T>C
NR_037660.1:n.1492T>C
XM_011539064.1:c.*322+392A>G	XP_011537366.1:n.*322+392A>G
XR_945178.1:n.1400+392A>G
NM_172240.3:c.1316T>C MANE Select	NP_758440.1:p.Leu439Pro
NM_001199777.2:c.1190T>C	NP_001186706.1:p.Leu397Pro
NR_037659.2:n.1319T>C
NR_037660.2:n.1355T>C