Canonical Allele Identifier: CA130509

Gene: BCKDK

Linked Data

• ClinVar Variation Id: 39743
• ClinVar RCV Id: RCV000032959 ; RCV002243680
• dbSNP Id: rs397514573
• ExAC: 16:31121568 C / T
• gnomAD v2: 16-31121568-C-T
• gnomAD v3: 16-31110247-C-T
• gnomAD v4: 16-31110247-C-T
• MyVariant Identifiers: chr16:g.31121568C>T (hg19) ; chr16:g.31110247C>T (hg38)
• PubMed: PMID:22956686

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31110247C>T , CM000678.2:g.31110247C>T	GRCh38
NC_000016.9:g.31121568C>T , CM000678.1:g.31121568C>T	GRCh37
NC_000016.8:g.31029069C>T	NCBI36
NG_033011.1:g.6954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219794.11:c.466C>T MANE Select	ENSP00000219794.6:p.Arg156Ter
ENST00000219794.10:c.466C>T	ENSP00000219794.6:p.Arg156Ter
ENST00000287507.7:c.466C>T	ENSP00000287507.3:p.Arg156Ter
ENST00000394950.7:c.466C>T	ENSP00000378404.3:p.Arg156Ter
ENST00000394951.5:c.466C>T	ENSP00000378405.1:p.Arg156Ter
ENST00000484226.2:c.439C>T	ENSP00000457226.1:p.Arg147Ter
ENST00000566568.1:n.967C>T
ENST00000567530.5:c.466C>T	ENSP00000456479.1:p.Arg156Ter
NM_001122957.2:c.466C>T	NP_001116429.1:p.Arg156Ter
NM_001271926.1:c.466C>T	NP_001258855.1:p.Arg156Ter
NM_005881.3:c.466C>T	NP_005872.2:p.Arg156Ter
XM_017022859.1:c.466C>T	XP_016878348.1:p.Arg156Ter
NM_005881.4:c.466C>T MANE Select	NP_005872.2:p.Arg156Ter
NM_001122957.3:c.466C>T	NP_001116429.1:p.Arg156Ter
NM_001271926.2:c.466C>T	NP_001258855.1:p.Arg156Ter
NM_001122957.4:c.466C>T	NP_001116429.1:p.Arg156Ter
NM_001271926.3:c.466C>T	NP_001258855.1:p.Arg156Ter