Canonical Allele Identifier: CA412202912

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020988T>A (hg19) ; chr22:g.50582559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582559T>A , CM000684.2:g.50582559T>A	GRCh38
NC_000022.10:g.51020988T>A , CM000684.1:g.51020988T>A	GRCh37
NC_000022.9:g.49367854T>A	NCBI36
NG_012643.1:g.1109A>T
NG_029213.1:g.5441A>T , LRG_855:g.5441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.223A>T (CHKB) MANE Select	ENSP00000384400.3:p.Ser75Cys
ENST00000406938.2:c.223A>T (CHKB)	ENSP00000384400.2:p.Ser75Cys
ENST00000463053.1:n.307-202A>T (CHKB)
ENST00000476289.5:n.296A>T (CHKB)
ENST00000479003.5:n.262A>T (CHKB)
ENST00000481673.5:n.287A>T (CHKB)
ENST00000484266.5:n.266A>T (CHKB)
ENST00000492556.5:n.407A>T (CHKB-CPT1B)
ENST00000492582.5:n.296A>T (CHKB)
NM_005198.4:c.223A>T , LRG_855t1:c.223A>T (CHKB)	NP_005189.2:p.Ser75Cys
NR_027928.2:n.441A>T (CHKB-CPT1B)
NM_005198.5:c.223A>T (CHKB) MANE Select	NP_005189.2:p.Ser75Cys