Canonical Allele Identifier: CA363589090

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 1694138
• ClinVar RCV Id: RCV002262007
• dbSNP Id: rs1295954266
• gnomAD v2: 6-32810464-A-G
• gnomAD v4: 6-32842687-A-G
• MyVariant Identifiers: chr6:g.32810464A>G (hg19) ; chr6:g.32842687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842687A>G , CM000668.2:g.32842687A>G	GRCh38
NC_000006.11:g.32810464A>G , CM000668.1:g.32810464A>G	GRCh37
NC_000006.10:g.32918442A>G	NCBI36
NG_009793.3:g.1084T>C
NG_028165.1:g.7249T>C
NG_009793.4:g.1084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.571T>C
ENST00000697612.1:n.1249T>C
ENST00000374881.3:c.380T>C	ENSP00000364015.2:p.Leu127Pro
ENST00000374882.8:c.392T>C MANE Select	ENSP00000364016.4:p.Leu131Pro
ENST00000650411.1:n.1713T>C
ENST00000650793.1:n.571T>C
ENST00000374881.2:c.380T>C	ENSP00000364015.2:p.Leu127Pro
ENST00000374882.7:c.392T>C	ENSP00000364016.3:p.Leu131Pro
ENST00000395339.7:c.320T>C	ENSP00000378748.3:p.Leu107Pro
ENST00000484003.1:n.776T>C
NM_004159.4:c.380T>C	NP_004150.1:p.Leu127Pro
NM_148919.3:c.392T>C	NP_683720.2:p.Leu131Pro
NM_148919.4:c.392T>C MANE Select	NP_683720.2:p.Leu131Pro
NM_004159.5:c.380T>C	NP_004150.1:p.Leu127Pro