Canonical Allele Identifier: CA412200421

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019894A>C (hg19) ; chr22:g.50581465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581465A>C , CM000684.2:g.50581465A>C	GRCh38
NC_000022.10:g.51019894A>C , CM000684.1:g.51019894A>C	GRCh37
NC_000022.9:g.49366760A>C	NCBI36
NG_012643.1:g.2203T>G
NG_029213.1:g.6535T>G , LRG_855:g.6535T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.536T>G (CHKB) MANE Select	ENSP00000384400.3:p.Met179Arg
ENST00000406938.2:c.536T>G (CHKB)	ENSP00000384400.2:p.Met179Arg
ENST00000463053.1:n.685T>G (CHKB)
ENST00000468532.5:n.413T>G (CHKB)
ENST00000476289.5:n.809T>G (CHKB)
ENST00000479003.5:n.1161T>G (CHKB)
ENST00000481673.5:n.986T>G (CHKB)
ENST00000484266.5:n.576+784T>G (CHKB)
ENST00000492556.5:n.1306T>G (CHKB-CPT1B)
ENST00000492582.5:n.1195T>G (CHKB)
NM_005198.4:c.536T>G , LRG_855t1:c.536T>G (CHKB)	NP_005189.2:p.Met179Arg
NR_027928.2:n.754T>G (CHKB-CPT1B)
NM_005198.5:c.536T>G (CHKB) MANE Select	NP_005189.2:p.Met179Arg