Canonical Allele Identifier: CA891842432

Gene: SDHB

Linked Data

• ClinVar Variation Id: 579501
• ClinVar RCV Id: RCV000702806
• dbSNP Id: rs1557741425
• MyVariant Identifiers: chr1:g.17355119dup (hg19) ; chr1:g.17028624dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028624dup , CM000663.2:g.17028624dup	GRCh38
NC_000001.10:g.17355119dup , CM000663.1:g.17355119dup	GRCh37
NC_000001.9:g.17227706dup	NCBI36
NG_012340.1:g.30547dup , LRG_316:g.30547dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.228dup	ENSP00000481376.2:p.Tyr77ValfsTer21
ENST00000491274.6:c.357dup	ENSP00000480482.2:p.Tyr120ValfsTer21
ENST00000375499.8:c.399dup MANE Select	ENSP00000364649.3:p.Tyr134ValfsTer21
ENST00000375499.7:c.399dup	ENSP00000364649.3:p.Tyr134ValfsTer21
ENST00000463045.2:c.228dup	ENSP00000481376.1:p.Tyr77ValfsTer21
ENST00000475506.1:n.316dup
ENST00000485515.5:n.357+30dup
ENST00000491274.5:c.357dup	ENSP00000480482.1:p.Tyr120ValfsTer21
NM_003000.2:c.399dup , LRG_316t1:c.399dup	NP_002991.2:p.Tyr134ValfsTer21
NM_003000.3:c.399dup MANE Select	NP_002991.2:p.Tyr134ValfsTer21