Canonical Allele Identifier: CA515274113

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019884G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581455G>T , CM000684.2:g.50581455G>T	GRCh38
NC_000022.10:g.51019884G>T , CM000684.1:g.51019884G>T	GRCh37
NC_000022.9:g.49366750G>T	NCBI36
NG_012643.1:g.2213C>A
NG_029213.1:g.6545C>A , LRG_855:g.6545C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.546C>A (CHKB) MANE Select	ENSP00000384400.3:p.Thr182=
ENST00000406938.2:c.546C>A (CHKB)	ENSP00000384400.2:p.Thr182=
ENST00000463053.1:n.695C>A (CHKB)
ENST00000468532.5:n.423C>A (CHKB)
ENST00000476289.5:n.819C>A (CHKB)
ENST00000479003.5:n.1171C>A (CHKB)
ENST00000481673.5:n.996C>A (CHKB)
ENST00000484266.5:n.577-795C>A (CHKB)
ENST00000492556.5:n.1316C>A (CHKB-CPT1B)
ENST00000492582.5:n.1205C>A (CHKB)
NM_005198.4:c.546C>A , LRG_855t1:c.546C>A (CHKB)	NP_005189.2:p.Thr182=
NR_027928.2:n.764C>A (CHKB-CPT1B)
NM_005198.5:c.546C>A (CHKB) MANE Select	NP_005189.2:p.Thr182=