Canonical Allele Identifier: CA412202567

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020755A>G (hg19) ; chr22:g.50582326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582326A>G , CM000684.2:g.50582326A>G	GRCh38
NC_000022.10:g.51020755A>G , CM000684.1:g.51020755A>G	GRCh37
NC_000022.9:g.49367621A>G	NCBI36
NG_012643.1:g.1342T>C
NG_029213.1:g.5674T>C , LRG_855:g.5674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.256T>C (CHKB) MANE Select	ENSP00000384400.3:p.Ser86Pro
ENST00000406938.2:c.256T>C (CHKB)	ENSP00000384400.2:p.Ser86Pro
ENST00000463053.1:n.338T>C (CHKB)
ENST00000465842.1:n.95T>C (CHKB)
ENST00000468532.5:n.133T>C (CHKB)
ENST00000476289.5:n.529T>C (CHKB)
ENST00000479003.5:n.495T>C (CHKB)
ENST00000481673.5:n.320T>C (CHKB)
ENST00000484266.5:n.499T>C (CHKB)
ENST00000492556.5:n.640T>C (CHKB-CPT1B)
ENST00000492582.5:n.529T>C (CHKB)
NM_005198.4:c.256T>C , LRG_855t1:c.256T>C (CHKB)	NP_005189.2:p.Ser86Pro
NR_027928.2:n.474T>C (CHKB-CPT1B)
NM_005198.5:c.256T>C (CHKB) MANE Select	NP_005189.2:p.Ser86Pro