Canonical Allele Identifier: CA16041095

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 370827
• ClinVar RCV Id: RCV000409047 ; RCV000780960
• dbSNP Id: rs1057516799
• gnomAD v4: 6-80168884-G-T
• MyVariant Identifiers: chr6:g.80878601G>T (hg19) ; chr6:g.80168884G>T (hg38)
• PubMed: PMID:8430702 ; PMID:16786533

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168884G>T , CM000668.2:g.80168884G>T	GRCh38
NC_000006.11:g.80878601G>T , CM000668.1:g.80878601G>T	GRCh37
NC_000006.10:g.80935320G>T	NCBI36
NG_009775.1:g.67258G>T
NG_009775.2:g.67258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.487G>T MANE Select	ENSP00000318351.5:p.Glu163Ter
ENST00000320393.8:c.487G>T	ENSP00000318351.5:p.Glu163Ter
ENST00000356489.9:c.487G>T	ENSP00000348880.5:p.Glu163Ter
ENST00000369760.8:c.487G>T	ENSP00000358775.4:p.Glu163Ter
NM_000056.3:c.487G>T	NP_000047.1:p.Glu163Ter
NM_183050.2:c.487G>T	NP_898871.1:p.Glu163Ter
XM_005248756.3:c.487G>T	XP_005248813.1:p.Glu163Ter
XM_006715542.2:c.277G>T	XP_006715605.1:p.Glu93Ter
XM_011536023.1:c.487G>T	XP_011534325.1:p.Glu163Ter
XM_011536024.1:c.487G>T	XP_011534326.1:p.Glu163Ter
XM_011536025.1:c.487G>T	XP_011534327.1:p.Glu163Ter
XM_011536026.1:c.277G>T	XP_011534328.1:p.Glu93Ter
XM_011536027.1:c.487G>T	XP_011534329.1:p.Glu163Ter
NM_000056.4:c.487G>T	NP_000047.1:p.Glu163Ter
NM_001318975.1:c.277G>T	NP_001305904.1:p.Glu93Ter
NM_183050.3:c.487G>T	NP_898871.1:p.Glu163Ter
NR_134945.1:n.571G>T
XM_005248756.5:c.487G>T	XP_005248813.1:p.Glu163Ter
XM_011536023.3:c.487G>T	XP_011534325.1:p.Glu163Ter
XM_011536024.3:c.487G>T	XP_011534326.1:p.Glu163Ter
XM_011536025.3:c.487G>T	XP_011534327.1:p.Glu163Ter
XR_001743546.2:n.517G>T
XR_001743547.2:n.517G>T
XR_001743548.2:n.517G>T
XR_001743549.2:n.517G>T
XR_002956292.1:n.517G>T
NM_183050.4:c.487G>T MANE Select	NP_898871.1:p.Glu163Ter
NR_134945.2:n.510G>T
NM_000056.5:c.487G>T	NP_000047.1:p.Glu163Ter