Canonical Allele Identifier: CA515274436

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581530C>T , CM000684.2:g.50581530C>T	GRCh38
NC_000022.10:g.51019959C>T , CM000684.1:g.51019959C>T	GRCh37
NC_000022.9:g.49366825C>T	NCBI36
NG_012643.1:g.2138G>A
NG_029213.1:g.6470G>A , LRG_855:g.6470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.471G>A (CHKB) MANE Select	ENSP00000384400.3:p.Glu157=
ENST00000406938.2:c.471G>A (CHKB)	ENSP00000384400.2:p.Glu157=
ENST00000463053.1:n.620G>A (CHKB)
ENST00000468532.5:n.348G>A (CHKB)
ENST00000476289.5:n.744G>A (CHKB)
ENST00000479003.5:n.1096G>A (CHKB)
ENST00000481673.5:n.921G>A (CHKB)
ENST00000484266.5:n.576+719G>A (CHKB)
ENST00000492556.5:n.1241G>A (CHKB-CPT1B)
ENST00000492582.5:n.1130G>A (CHKB)
NM_005198.4:c.471G>A , LRG_855t1:c.471G>A (CHKB)	NP_005189.2:p.Glu157=
NR_027928.2:n.689G>A (CHKB-CPT1B)
NM_005198.5:c.471G>A (CHKB) MANE Select	NP_005189.2:p.Glu157=