Canonical Allele Identifier: CA412202429

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020730A>T (hg19) ; chr22:g.50582301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582301A>T , CM000684.2:g.50582301A>T	GRCh38
NC_000022.10:g.51020730A>T , CM000684.1:g.51020730A>T	GRCh37
NC_000022.9:g.49367596A>T	NCBI36
NG_012643.1:g.1367T>A
NG_029213.1:g.5699T>A , LRG_855:g.5699T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.281T>A (CHKB) MANE Select	ENSP00000384400.3:p.Val94Asp
ENST00000406938.2:c.281T>A (CHKB)	ENSP00000384400.2:p.Val94Asp
ENST00000463053.1:n.363T>A (CHKB)
ENST00000465842.1:n.120T>A (CHKB)
ENST00000468532.5:n.158T>A (CHKB)
ENST00000476289.5:n.554T>A (CHKB)
ENST00000479003.5:n.520T>A (CHKB)
ENST00000481673.5:n.345T>A (CHKB)
ENST00000484266.5:n.524T>A (CHKB)
ENST00000492556.5:n.665T>A (CHKB-CPT1B)
ENST00000492582.5:n.554T>A (CHKB)
NM_005198.4:c.281T>A , LRG_855t1:c.281T>A (CHKB)	NP_005189.2:p.Val94Asp
NR_027928.2:n.499T>A (CHKB-CPT1B)
NM_005198.5:c.281T>A (CHKB) MANE Select	NP_005189.2:p.Val94Asp