Canonical Allele Identifier: CA10323900

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582633T>C , CM000684.2:g.50582633T>C	GRCh38
NC_000022.10:g.51021062T>C , CM000684.1:g.51021062T>C	GRCh37
NC_000022.9:g.49367928T>C	NCBI36
NG_012643.1:g.1035A>G
NG_029213.1:g.5367A>G , LRG_855:g.5367A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.149A>G (CHKB) MANE Select	NP_005189.2:p.Tyr50Cys
ENST00000406938.3:c.149A>G (CHKB) MANE Select	ENSP00000384400.3:p.Tyr50Cys
NM_005198.4:c.149A>G , LRG_855t1:c.149A>G (CHKB)	NP_005189.2:p.Tyr50Cys
NR_027928.2:n.367A>G (CHKB-CPT1B)
ENST00000406938.2:c.149A>G (CHKB)	ENSP00000384400.2:p.Tyr50Cys
ENST00000463053.1:n.307-276A>G (CHKB)
ENST00000476289.5:n.222A>G (CHKB)
ENST00000479003.5:n.188A>G (CHKB)
ENST00000481673.5:n.213A>G (CHKB)
ENST00000484266.5:n.192A>G (CHKB)
ENST00000492556.5:n.333A>G (CHKB-CPT1B)
ENST00000492582.5:n.222A>G (CHKB)