Canonical Allele Identifier: CA365021630

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 2691620
• ClinVar RCV Id: RCV003490825
• MyVariant Identifiers: chr6:g.81053507A>C (hg19) ; chr6:g.80343790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343790A>C , CM000668.2:g.80343790A>C	GRCh38
NC_000006.11:g.81053507A>C , CM000668.1:g.81053507A>C	GRCh37
NC_000006.10:g.81110226A>C	NCBI36
NG_009775.1:g.242164A>C
NG_009775.2:g.242164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1165A>C MANE Select	ENSP00000318351.5:p.Met389Leu
ENST00000320393.8:c.1165A>C	ENSP00000318351.5:p.Met389Leu
ENST00000356489.9:c.1165A>C	ENSP00000348880.5:p.Met389Leu
ENST00000491328.1:n.220A>C
NM_000056.3:c.1165A>C	NP_000047.1:p.Met389Leu
NM_183050.2:c.1165A>C	NP_898871.1:p.Met389Leu
XM_006715542.2:c.955A>C	XP_006715605.1:p.Met319Leu
XM_011536024.1:c.*171A>C	XP_011534326.1:n.*171A>C
XM_011536026.1:c.955A>C	XP_011534328.1:p.Met319Leu
NM_000056.4:c.1165A>C	NP_000047.1:p.Met389Leu
NM_001318975.1:c.955A>C	NP_001305904.1:p.Met319Leu
NM_183050.3:c.1165A>C	NP_898871.1:p.Met389Leu
NR_134945.1:n.1343A>C
XM_011536024.3:c.*171A>C	XP_011534326.1:n.*171A>C
XR_001743546.2:n.1068+70569A>C
XR_001743547.2:n.1068+70569A>C
XR_001743548.2:n.1068+70569A>C
XR_001743549.2:n.1068+70569A>C
XR_002956292.1:n.1068+70569A>C
NM_183050.4:c.1165A>C MANE Select	NP_898871.1:p.Met389Leu
NR_134945.2:n.1282A>C
NM_000056.5:c.1165A>C	NP_000047.1:p.Met389Leu