Canonical Allele Identifier: CA412202723

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51020781C>T (hg19) ; chr22:g.50582352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582352C>T , CM000684.2:g.50582352C>T	GRCh38
NC_000022.10:g.51020781C>T , CM000684.1:g.51020781C>T	GRCh37
NC_000022.9:g.49367647C>T	NCBI36
NG_012643.1:g.1316G>A
NG_029213.1:g.5648G>A , LRG_855:g.5648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.230G>A (CHKB) MANE Select	ENSP00000384400.3:p.Gly77Asp
ENST00000406938.2:c.230G>A (CHKB)	ENSP00000384400.2:p.Gly77Asp
ENST00000463053.1:n.312G>A (CHKB)
ENST00000465842.1:n.69G>A (CHKB)
ENST00000468532.5:n.107G>A (CHKB)
ENST00000476289.5:n.503G>A (CHKB)
ENST00000479003.5:n.469G>A (CHKB)
ENST00000481673.5:n.294G>A (CHKB)
ENST00000484266.5:n.473G>A (CHKB)
ENST00000492556.5:n.614G>A (CHKB-CPT1B)
ENST00000492582.5:n.503G>A (CHKB)
NM_005198.4:c.230G>A , LRG_855t1:c.230G>A (CHKB)	NP_005189.2:p.Gly77Asp
NR_027928.2:n.448G>A (CHKB-CPT1B)
NM_005198.5:c.230G>A (CHKB) MANE Select	NP_005189.2:p.Gly77Asp