Canonical Allele Identifier: CA10323896

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582618T>C , CM000684.2:g.50582618T>C	GRCh38
NC_000022.10:g.51021047T>C , CM000684.1:g.51021047T>C	GRCh37
NC_000022.9:g.49367913T>C	NCBI36
NG_012643.1:g.1050A>G
NG_029213.1:g.5382A>G , LRG_855:g.5382A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.164A>G (CHKB) MANE Select	NP_005189.2:p.Glu55Gly
ENST00000406938.3:c.164A>G (CHKB) MANE Select	ENSP00000384400.3:p.Glu55Gly
NM_005198.4:c.164A>G , LRG_855t1:c.164A>G (CHKB)	NP_005189.2:p.Glu55Gly
NR_027928.2:n.382A>G (CHKB-CPT1B)
ENST00000406938.2:c.164A>G (CHKB)	ENSP00000384400.2:p.Glu55Gly
ENST00000463053.1:n.307-261A>G (CHKB)
ENST00000476289.5:n.237A>G (CHKB)
ENST00000479003.5:n.203A>G (CHKB)
ENST00000481673.5:n.228A>G (CHKB)
ENST00000484266.5:n.207A>G (CHKB)
ENST00000492556.5:n.348A>G (CHKB-CPT1B)
ENST00000492582.5:n.237A>G (CHKB)