Canonical Allele Identifier: CA513368944

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936124314
• gnomAD v3: 22-19724401-C-A
• gnomAD v4: 22-19724401-C-A
• MyVariant Identifiers: chr22:g.19711924C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724401C>A , CM000684.2:g.19724401C>A	GRCh38
NC_000022.10:g.19711924C>A , CM000684.1:g.19711924C>A	GRCh37
NC_000022.9:g.18091924C>A	NCBI36
NG_007974.1:g.5859C>A , LRG_478:g.5859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.558C>A (GP1BB) MANE Select	ENSP00000383382.2:p.Ala186=
ENST00000366425.3:c.558C>A (GP1BB)	ENSP00000383382.2:p.Ala186=
ENST00000431044.5:c.*1643C>A (SEPTIN5)	ENSP00000399685.1:n.*1643C>A
NM_000407.4:c.558C>A , LRG_478t1:c.558C>A (GP1BB)	NP_000398.1:p.Ala186=
NR_037611.1:n.4298C>A
NR_037612.1:n.2802C>A
NM_000407.5:c.558C>A (GP1BB) MANE Select	NP_000398.1:p.Ala186=