Canonical Allele Identifier: CA412200895

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019952C>G (hg19) ; chr22:g.50581523C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581523C>G , CM000684.2:g.50581523C>G	GRCh38
NC_000022.10:g.51019952C>G , CM000684.1:g.51019952C>G	GRCh37
NC_000022.9:g.49366818C>G	NCBI36
NG_012643.1:g.2145G>C
NG_029213.1:g.6477G>C , LRG_855:g.6477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.478G>C (CHKB) MANE Select	ENSP00000384400.3:p.Glu160Gln
ENST00000406938.2:c.478G>C (CHKB)	ENSP00000384400.2:p.Glu160Gln
ENST00000463053.1:n.627G>C (CHKB)
ENST00000468532.5:n.355G>C (CHKB)
ENST00000476289.5:n.751G>C (CHKB)
ENST00000479003.5:n.1103G>C (CHKB)
ENST00000481673.5:n.928G>C (CHKB)
ENST00000484266.5:n.576+726G>C (CHKB)
ENST00000492556.5:n.1248G>C (CHKB-CPT1B)
ENST00000492582.5:n.1137G>C (CHKB)
NM_005198.4:c.478G>C , LRG_855t1:c.478G>C (CHKB)	NP_005189.2:p.Glu160Gln
NR_027928.2:n.696G>C (CHKB-CPT1B)
NM_005198.5:c.478G>C (CHKB) MANE Select	NP_005189.2:p.Glu160Gln