Canonical Allele Identifier: CA638352752

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1308837649
• gnomAD v2: 22-19711303-G-A
• gnomAD v3: 22-19723780-G-A
• gnomAD v4: 22-19723780-G-A
• MyVariant Identifiers: chr22:g.19711303G>A (hg19) ; chr22:g.19723780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723780G>A , CM000684.2:g.19723780G>A	GRCh38
NC_000022.10:g.19711303G>A , CM000684.1:g.19711303G>A	GRCh37
NC_000022.9:g.18091303G>A	NCBI36
NG_007974.1:g.5238G>A , LRG_478:g.5238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.11-74G>A (GP1BB) MANE Select	ENSP00000383382.2:n.11-74G>A
ENST00000366425.3:c.11-74G>A (GP1BB)	ENSP00000383382.2:n.11-74G>A
ENST00000431044.5:c.*1096-74G>A (SEPTIN5)	ENSP00000399685.1:n.*1096-74G>A
ENST00000455843.5:c.*1096-74G>A (SEPTIN5)	ENSP00000391731.1:n.*1096-74G>A
ENST00000470814.1:n.1983-74G>A (SEPTIN5)
NM_000407.4:c.11-74G>A , LRG_478t1:c.11-74G>A (GP1BB)	NP_000398.1:n.11-74G>A
NR_037611.1:n.3751-74G>A
NR_037612.1:n.2255-74G>A
NM_000407.5:c.11-74G>A (GP1BB) MANE Select	NP_000398.1:n.11-74G>A