Canonical Allele Identifier: CA412200834

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019946C>A (hg19) ; chr22:g.50581517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581517C>A , CM000684.2:g.50581517C>A	GRCh38
NC_000022.10:g.51019946C>A , CM000684.1:g.51019946C>A	GRCh37
NC_000022.9:g.49366812C>A	NCBI36
NG_012643.1:g.2151G>T
NG_029213.1:g.6483G>T , LRG_855:g.6483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.484G>T (CHKB) MANE Select	ENSP00000384400.3:p.Val162Leu
ENST00000406938.2:c.484G>T (CHKB)	ENSP00000384400.2:p.Val162Leu
ENST00000463053.1:n.633G>T (CHKB)
ENST00000468532.5:n.361G>T (CHKB)
ENST00000476289.5:n.757G>T (CHKB)
ENST00000479003.5:n.1109G>T (CHKB)
ENST00000481673.5:n.934G>T (CHKB)
ENST00000484266.5:n.576+732G>T (CHKB)
ENST00000492556.5:n.1254G>T (CHKB-CPT1B)
ENST00000492582.5:n.1143G>T (CHKB)
NM_005198.4:c.484G>T , LRG_855t1:c.484G>T (CHKB)	NP_005189.2:p.Val162Leu
NR_027928.2:n.702G>T (CHKB-CPT1B)
NM_005198.5:c.484G>T (CHKB) MANE Select	NP_005189.2:p.Val162Leu