Canonical Allele Identifier: CA10323759

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581500A>C , CM000684.2:g.50581500A>C	GRCh38
NC_000022.10:g.51019929A>C , CM000684.1:g.51019929A>C	GRCh37
NC_000022.9:g.49366795A>C	NCBI36
NG_012643.1:g.2168T>G
NG_029213.1:g.6500T>G , LRG_855:g.6500T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.501T>G (CHKB) MANE Select	NP_005189.2:p.Ile167Met
ENST00000406938.3:c.501T>G (CHKB) MANE Select	ENSP00000384400.3:p.Ile167Met
NM_005198.4:c.501T>G , LRG_855t1:c.501T>G (CHKB)	NP_005189.2:p.Ile167Met
NR_027928.2:n.719T>G (CHKB-CPT1B)
ENST00000406938.2:c.501T>G (CHKB)	ENSP00000384400.2:p.Ile167Met
ENST00000463053.1:n.650T>G (CHKB)
ENST00000468532.5:n.378T>G (CHKB)
ENST00000476289.5:n.774T>G (CHKB)
ENST00000479003.5:n.1126T>G (CHKB)
ENST00000481673.5:n.951T>G (CHKB)
ENST00000484266.5:n.576+749T>G (CHKB)
ENST00000492556.5:n.1271T>G (CHKB-CPT1B)
ENST00000492582.5:n.1160T>G (CHKB)