Canonical Allele Identifier: CA2410935209
Community Standard Title: NM_005198.5(CHKB):c.810T= (p.Tyr270=)
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50580198A= , CM000684.2:g.50580198A= GRCh38
NC_000022.10:g.51018627A= , CM000684.1:g.51018627A= GRCh37
NC_000022.9:g.49365493A= NCBI36
NG_012643.1:g.3470T=
NG_029213.1:g.7802T= , LRG_855:g.7802T=

Transcript Alleles

HGVS Amino-acid Change
NM_005198.5:c.810T= (CHKB) MANE Select NP_005189.2:p.Tyr270=
ENST00000406938.3:c.810T= (CHKB) MANE Select ENSP00000384400.3:p.Tyr270=
NM_005198.4:c.810T= , LRG_855t1:c.810T= (CHKB) NP_005189.2:p.Tyr270=
NR_027928.2:n.1028T= (CHKB-CPT1B)
ENST00000406938.2:c.810T= (CHKB) ENSP00000384400.2:p.Tyr270=
ENST00000464225.5:n.56T= (CHKB)
ENST00000468532.5:n.773T= (CHKB)
ENST00000471515.5:n.172T= (CHKB)
ENST00000479003.5:n.1521T= (CHKB)
ENST00000481673.5:n.1260T= (CHKB)
ENST00000484266.5:n.805T= (CHKB)
ENST00000489453.1:n.435T= (CHKB)
ENST00000492556.5:n.1666T= (CHKB-CPT1B)
ENST00000492582.5:n.1469T= (CHKB)