Canonical Allele Identifier: CA395662076

Gene: BCKDK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31112192T>C , CM000678.2:g.31112192T>C	GRCh38
NC_000016.9:g.31123513T>C , CM000678.1:g.31123513T>C	GRCh37
NC_000016.8:g.31031014T>C	NCBI36
NG_033011.1:g.8899T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005881.4:c.1166T>C MANE Select	NP_005872.2:p.Leu389Pro
ENST00000219794.11:c.1166T>C MANE Select	ENSP00000219794.6:p.Leu389Pro
NM_001122957.2:c.*161T>C	NP_001116429.1:n.*161T>C
NM_001122957.3:c.*161T>C	NP_001116429.1:n.*161T>C
NM_001122957.4:c.*161T>C	NP_001116429.1:n.*161T>C
NM_001271926.1:c.*161T>C	NP_001258855.1:n.*161T>C
NM_001271926.2:c.*161T>C	NP_001258855.1:n.*161T>C
NM_001271926.3:c.*161T>C	NP_001258855.1:n.*161T>C
NM_005881.3:c.1166T>C	NP_005872.2:p.Leu389Pro
ENST00000219794.10:c.1166T>C	ENSP00000219794.6:p.Leu389Pro
ENST00000287507.7:c.*161T>C	ENSP00000287507.3:n.*161T>C
ENST00000394950.7:c.*161T>C	ENSP00000378404.3:n.*161T>C
ENST00000394951.5:c.1166T>C	ENSP00000378405.1:p.Leu389Pro
ENST00000566568.1:n.2184T>C
ENST00000567530.5:c.*438T>C	ENSP00000456479.1:n.*438T>C
ENST00000567682.1:c.182-5T>C
XM_017022859.1:c.1094+165T>C	XP_016878348.1:n.1094+165T>C