Canonical Allele Identifier: CA239864

Gene: BCKDK

Linked Data

• ClinVar Variation Id: 194068
• ClinVar RCV Id: RCV000174345 ; RCV001657946 ; RCV002516625
• dbSNP Id: rs201614853
• ExAC: 16:31123451 C / T
• gnomAD v2: 16-31123451-C-T
• gnomAD v3: 16-31112130-C-T
• gnomAD v4: 16-31112130-C-T
• MyVariant Identifiers: chr16:g.31123451C>T (hg19) ; chr16:g.31112130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31112130C>T , CM000678.2:g.31112130C>T	GRCh38
NC_000016.9:g.31123451C>T , CM000678.1:g.31123451C>T	GRCh37
NC_000016.8:g.31030952C>T	NCBI36
NG_033011.1:g.8837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219794.11:c.1104C>T MANE Select	ENSP00000219794.6:p.Phe368=
ENST00000219794.10:c.1104C>T	ENSP00000219794.6:p.Phe368=
ENST00000287507.7:c.*99C>T	ENSP00000287507.3:n.*99C>T
ENST00000394950.7:c.*99C>T	ENSP00000378404.3:n.*99C>T
ENST00000394951.5:c.1104C>T	ENSP00000378405.1:p.Phe368=
ENST00000566568.1:n.2122C>T
ENST00000567530.5:c.*376C>T	ENSP00000456479.1:n.*376C>T
ENST00000567682.1:c.182-67C>T
NM_001122957.2:c.*99C>T	NP_001116429.1:n.*99C>T
NM_001271926.1:c.*99C>T	NP_001258855.1:n.*99C>T
NM_005881.3:c.1104C>T	NP_005872.2:p.Phe368=
XM_017022859.1:c.1094+103C>T	XP_016878348.1:n.1094+103C>T
NM_005881.4:c.1104C>T MANE Select	NP_005872.2:p.Phe368=
NM_001122957.3:c.*99C>T	NP_001116429.1:n.*99C>T
NM_001271926.2:c.*99C>T	NP_001258855.1:n.*99C>T
NM_001122957.4:c.*99C>T	NP_001116429.1:n.*99C>T
NM_001271926.3:c.*99C>T	NP_001258855.1:n.*99C>T