Canonical Allele Identifier: CA449753916

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 1648576
• ClinVar RCV Id: RCV003773979
• dbSNP Id: rs1769991379
• gnomAD v3: 6-32842686-C-T
• gnomAD v4: 6-32842686-C-T
• MyVariant Identifiers: chr6:g.32810463C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842686C>T , CM000668.2:g.32842686C>T	GRCh38
NC_000006.11:g.32810463C>T , CM000668.1:g.32810463C>T	GRCh37
NC_000006.10:g.32918441C>T	NCBI36
NG_009793.3:g.1085G>A
NG_028165.1:g.7250G>A
NG_009793.4:g.1085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.572G>A
ENST00000697612.1:n.1250G>A
ENST00000374881.3:c.381G>A	ENSP00000364015.2:p.Leu127=
ENST00000374882.8:c.393G>A MANE Select	ENSP00000364016.4:p.Leu131=
ENST00000650411.1:n.1714G>A
ENST00000650793.1:n.572G>A
ENST00000374881.2:c.381G>A	ENSP00000364015.2:p.Leu127=
ENST00000374882.7:c.393G>A	ENSP00000364016.3:p.Leu131=
ENST00000395339.7:c.321G>A	ENSP00000378748.3:p.Leu107=
ENST00000484003.1:n.777G>A
NM_004159.4:c.381G>A	NP_004150.1:p.Leu127=
NM_148919.3:c.393G>A	NP_683720.2:p.Leu131=
NM_148919.4:c.393G>A MANE Select	NP_683720.2:p.Leu131=
NM_004159.5:c.381G>A	NP_004150.1:p.Leu127=