Canonical Allele Identifier: CA126158

Gene: GP1BB SEPTIN5

Linked Data

• ClinVar Variation Id: 16040
• ClinVar RCV Id: RCV000017415 ; RCV000851693 ; RCV001003919 ; RCV001003920 ; RCV002222354
• dbSNP Id: rs121909752
• gnomAD v4: 22-19723980-G-A
• MyVariant Identifiers: chr22:g.19711503G>A (hg19) ; chr22:g.19723980G>A (hg38)
• PubMed: PMID:10887115

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723980G>A , CM000684.2:g.19723980G>A	GRCh38
NC_000022.10:g.19711503G>A , CM000684.1:g.19711503G>A	GRCh37
NC_000022.9:g.18091503G>A	NCBI36
NG_007974.1:g.5438G>A , LRG_478:g.5438G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366425.4:c.137G>A (GP1BB) MANE Select	ENSP00000383382.2:p.Trp46Ter
ENST00000366425.3:c.137G>A (GP1BB)	ENSP00000383382.2:p.Trp46Ter
ENST00000431044.5:c.*1222G>A (SEPTIN5)	ENSP00000399685.1:n.*1222G>A
ENST00000455843.5:c.*1222G>A (SEPTIN5)	ENSP00000391731.1:n.*1222G>A
ENST00000470814.1:n.2109G>A (SEPTIN5)
NM_000407.4:c.137G>A , LRG_478t1:c.137G>A (GP1BB)	NP_000398.1:p.Trp46Ter
NR_037611.1:n.3877G>A
NR_037612.1:n.2381G>A
NM_000407.5:c.137G>A (GP1BB) MANE Select	NP_000398.1:p.Trp46Ter