Canonical Allele Identifier: CA325540906

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582666G>A , CM000684.2:g.50582666G>A	GRCh38
NC_000022.10:g.51021095G>A , CM000684.1:g.51021095G>A	GRCh37
NC_000022.9:g.49367961G>A	NCBI36
NG_012643.1:g.1002C>T
NG_029213.1:g.5334C>T , LRG_855:g.5334C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.116C>T (CHKB) MANE Select	NP_005189.2:p.Ser39Leu
ENST00000406938.3:c.116C>T (CHKB) MANE Select	ENSP00000384400.3:p.Ser39Leu
NM_005198.4:c.116C>T , LRG_855t1:c.116C>T (CHKB)	NP_005189.2:p.Ser39Leu
NR_027928.2:n.334C>T (CHKB-CPT1B)
ENST00000406938.2:c.116C>T (CHKB)	ENSP00000384400.2:p.Ser39Leu
ENST00000463053.1:n.307-309C>T (CHKB)
ENST00000476289.5:n.189C>T (CHKB)
ENST00000479003.5:n.155C>T (CHKB)
ENST00000481673.5:n.180C>T (CHKB)
ENST00000484266.5:n.159C>T (CHKB)
ENST00000492556.5:n.300C>T (CHKB-CPT1B)
ENST00000492582.5:n.189C>T (CHKB)