Canonical Allele Identifier: CA410677077

Gene: GP1BB SEPTIN5

Linked Data

• ClinVar Variation Id: 627297
• ClinVar RCV Id: RCV000852106
• dbSNP Id: rs1464643023
• gnomAD v2: 22-19711673-T-C
• gnomAD v4: 22-19724150-T-C
• MyVariant Identifiers: chr22:g.19711673T>C (hg19) ; chr22:g.19724150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724150T>C , CM000684.2:g.19724150T>C	GRCh38
NC_000022.10:g.19711673T>C , CM000684.1:g.19711673T>C	GRCh37
NC_000022.9:g.18091673T>C	NCBI36
NG_007974.1:g.5608T>C , LRG_478:g.5608T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366425.4:c.307T>C (GP1BB) MANE Select	ENSP00000383382.2:p.Trp103Arg
ENST00000366425.3:c.307T>C (GP1BB)	ENSP00000383382.2:p.Trp103Arg
ENST00000431044.5:c.*1392T>C (SEPTIN5)	ENSP00000399685.1:n.*1392T>C
ENST00000455843.5:c.*1392T>C (SEPTIN5)	ENSP00000391731.1:n.*1392T>C
ENST00000470814.1:n.2279T>C (SEPTIN5)
NM_000407.4:c.307T>C , LRG_478t1:c.307T>C (GP1BB)	NP_000398.1:p.Trp103Arg
NR_037611.1:n.4047T>C
NR_037612.1:n.2551T>C
NM_000407.5:c.307T>C (GP1BB) MANE Select	NP_000398.1:p.Trp103Arg