Canonical Allele Identifier: CA412200377

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019886T>C (hg19) ; chr22:g.50581457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581457T>C , CM000684.2:g.50581457T>C	GRCh38
NC_000022.10:g.51019886T>C , CM000684.1:g.51019886T>C	GRCh37
NC_000022.9:g.49366752T>C	NCBI36
NG_012643.1:g.2211A>G
NG_029213.1:g.6543A>G , LRG_855:g.6543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.544A>G (CHKB) MANE Select	ENSP00000384400.3:p.Thr182Ala
ENST00000406938.2:c.544A>G (CHKB)	ENSP00000384400.2:p.Thr182Ala
ENST00000463053.1:n.693A>G (CHKB)
ENST00000468532.5:n.421A>G (CHKB)
ENST00000476289.5:n.817A>G (CHKB)
ENST00000479003.5:n.1169A>G (CHKB)
ENST00000481673.5:n.994A>G (CHKB)
ENST00000484266.5:n.576+792A>G (CHKB)
ENST00000492556.5:n.1314A>G (CHKB-CPT1B)
ENST00000492582.5:n.1203A>G (CHKB)
NM_005198.4:c.544A>G , LRG_855t1:c.544A>G (CHKB)	NP_005189.2:p.Thr182Ala
NR_027928.2:n.762A>G (CHKB-CPT1B)
NM_005198.5:c.544A>G (CHKB) MANE Select	NP_005189.2:p.Thr182Ala