Canonical Allele Identifier: CA412200598

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019916C>T (hg19) ; chr22:g.50581487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581487C>T , CM000684.2:g.50581487C>T	GRCh38
NC_000022.10:g.51019916C>T , CM000684.1:g.51019916C>T	GRCh37
NC_000022.9:g.49366782C>T	NCBI36
NG_012643.1:g.2181G>A
NG_029213.1:g.6513G>A , LRG_855:g.6513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.514G>A (CHKB) MANE Select	ENSP00000384400.3:p.Ala172Thr
ENST00000406938.2:c.514G>A (CHKB)	ENSP00000384400.2:p.Ala172Thr
ENST00000463053.1:n.663G>A (CHKB)
ENST00000468532.5:n.391G>A (CHKB)
ENST00000476289.5:n.787G>A (CHKB)
ENST00000479003.5:n.1139G>A (CHKB)
ENST00000481673.5:n.964G>A (CHKB)
ENST00000484266.5:n.576+762G>A (CHKB)
ENST00000492556.5:n.1284G>A (CHKB-CPT1B)
ENST00000492582.5:n.1173G>A (CHKB)
NM_005198.4:c.514G>A , LRG_855t1:c.514G>A (CHKB)	NP_005189.2:p.Ala172Thr
NR_027928.2:n.732G>A (CHKB-CPT1B)
NM_005198.5:c.514G>A (CHKB) MANE Select	NP_005189.2:p.Ala172Thr