Canonical Allele Identifier: CA515274367

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581512C>T , CM000684.2:g.50581512C>T	GRCh38
NC_000022.10:g.51019941C>T , CM000684.1:g.51019941C>T	GRCh37
NC_000022.9:g.49366807C>T	NCBI36
NG_012643.1:g.2156G>A
NG_029213.1:g.6488G>A , LRG_855:g.6488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.489G>A (CHKB) MANE Select	ENSP00000384400.3:p.Leu163=
ENST00000406938.2:c.489G>A (CHKB)	ENSP00000384400.2:p.Leu163=
ENST00000463053.1:n.638G>A (CHKB)
ENST00000468532.5:n.366G>A (CHKB)
ENST00000476289.5:n.762G>A (CHKB)
ENST00000479003.5:n.1114G>A (CHKB)
ENST00000481673.5:n.939G>A (CHKB)
ENST00000484266.5:n.576+737G>A (CHKB)
ENST00000492556.5:n.1259G>A (CHKB-CPT1B)
ENST00000492582.5:n.1148G>A (CHKB)
NM_005198.4:c.489G>A , LRG_855t1:c.489G>A (CHKB)	NP_005189.2:p.Leu163=
NR_027928.2:n.707G>A (CHKB-CPT1B)
NM_005198.5:c.489G>A (CHKB) MANE Select	NP_005189.2:p.Leu163=