Canonical Allele Identifier: CA412202686

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020776T>A (hg19) ; chr22:g.50582347T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582347T>A , CM000684.2:g.50582347T>A	GRCh38
NC_000022.10:g.51020776T>A , CM000684.1:g.51020776T>A	GRCh37
NC_000022.9:g.49367642T>A	NCBI36
NG_012643.1:g.1321A>T
NG_029213.1:g.5653A>T , LRG_855:g.5653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.235A>T (CHKB) MANE Select	ENSP00000384400.3:p.Ser79Cys
ENST00000406938.2:c.235A>T (CHKB)	ENSP00000384400.2:p.Ser79Cys
ENST00000463053.1:n.317A>T (CHKB)
ENST00000465842.1:n.74A>T (CHKB)
ENST00000468532.5:n.112A>T (CHKB)
ENST00000476289.5:n.508A>T (CHKB)
ENST00000479003.5:n.474A>T (CHKB)
ENST00000481673.5:n.299A>T (CHKB)
ENST00000484266.5:n.478A>T (CHKB)
ENST00000492556.5:n.619A>T (CHKB-CPT1B)
ENST00000492582.5:n.508A>T (CHKB)
NM_005198.4:c.235A>T , LRG_855t1:c.235A>T (CHKB)	NP_005189.2:p.Ser79Cys
NR_027928.2:n.453A>T (CHKB-CPT1B)
NM_005198.5:c.235A>T (CHKB) MANE Select	NP_005189.2:p.Ser79Cys