Canonical Allele Identifier: CA412200360

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51019881C>A (hg19) ; chr22:g.50581452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581452C>A , CM000684.2:g.50581452C>A	GRCh38
NC_000022.10:g.51019881C>A , CM000684.1:g.51019881C>A	GRCh37
NC_000022.9:g.49366747C>A	NCBI36
NG_012643.1:g.2216G>T
NG_029213.1:g.6548G>T , LRG_855:g.6548G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.549G>T (CHKB) MANE Select	ENSP00000384400.3:p.Lys183Asn
ENST00000406938.2:c.549G>T (CHKB)	ENSP00000384400.2:p.Lys183Asn
ENST00000463053.1:n.698G>T (CHKB)
ENST00000468532.5:n.426G>T (CHKB)
ENST00000476289.5:n.822G>T (CHKB)
ENST00000479003.5:n.1174G>T (CHKB)
ENST00000481673.5:n.999G>T (CHKB)
ENST00000484266.5:n.577-792G>T (CHKB)
ENST00000492556.5:n.1319G>T (CHKB-CPT1B)
ENST00000492582.5:n.1208G>T (CHKB)
NM_005198.4:c.549G>T , LRG_855t1:c.549G>T (CHKB)	NP_005189.2:p.Lys183Asn
NR_027928.2:n.767G>T (CHKB-CPT1B)
NM_005198.5:c.549G>T (CHKB) MANE Select	NP_005189.2:p.Lys183Asn