Canonical Allele Identifier: CA412202541

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020751A>T (hg19) ; chr22:g.50582322A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582322A>T , CM000684.2:g.50582322A>T	GRCh38
NC_000022.10:g.51020751A>T , CM000684.1:g.51020751A>T	GRCh37
NC_000022.9:g.49367617A>T	NCBI36
NG_012643.1:g.1346T>A
NG_029213.1:g.5678T>A , LRG_855:g.5678T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.260T>A (CHKB) MANE Select	ENSP00000384400.3:p.Leu87His
ENST00000406938.2:c.260T>A (CHKB)	ENSP00000384400.2:p.Leu87His
ENST00000463053.1:n.342T>A (CHKB)
ENST00000465842.1:n.99T>A (CHKB)
ENST00000468532.5:n.137T>A (CHKB)
ENST00000476289.5:n.533T>A (CHKB)
ENST00000479003.5:n.499T>A (CHKB)
ENST00000481673.5:n.324T>A (CHKB)
ENST00000484266.5:n.503T>A (CHKB)
ENST00000492556.5:n.644T>A (CHKB-CPT1B)
ENST00000492582.5:n.533T>A (CHKB)
NM_005198.4:c.260T>A , LRG_855t1:c.260T>A (CHKB)	NP_005189.2:p.Leu87His
NR_027928.2:n.478T>A (CHKB-CPT1B)
NM_005198.5:c.260T>A (CHKB) MANE Select	NP_005189.2:p.Leu87His