Canonical Allele Identifier: CA410676221

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936108914
• gnomAD v3: 22-19723863-G-A
• gnomAD v4: 22-19723863-G-A
• MyVariant Identifiers: chr22:g.19711386G>A (hg19) ; chr22:g.19723863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723863G>A , CM000684.2:g.19723863G>A	GRCh38
NC_000022.10:g.19711386G>A , CM000684.1:g.19711386G>A	GRCh37
NC_000022.9:g.18091386G>A	NCBI36
NG_007974.1:g.5321G>A , LRG_478:g.5321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.20G>A (GP1BB) MANE Select	ENSP00000383382.2:p.Gly7Glu
ENST00000366425.3:c.20G>A (GP1BB)	ENSP00000383382.2:p.Gly7Glu
ENST00000431044.5:c.*1105G>A (SEPTIN5)	ENSP00000399685.1:n.*1105G>A
ENST00000455843.5:c.*1105G>A (SEPTIN5)	ENSP00000391731.1:n.*1105G>A
ENST00000470814.1:n.1992G>A (SEPTIN5)
NM_000407.4:c.20G>A , LRG_478t1:c.20G>A (GP1BB)	NP_000398.1:p.Gly7Glu
NR_037611.1:n.3760G>A
NR_037612.1:n.2264G>A
NM_000407.5:c.20G>A (GP1BB) MANE Select	NP_000398.1:p.Gly7Glu