Canonical Allele Identifier: CA513686663

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1011314180
• gnomAD v2: 22-19711384-C-G
• gnomAD v4: 22-19723861-C-G
• MyVariant Identifiers: chr22:g.19711384C>G (hg19) ; chr22:g.19723861C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723861C>G , CM000684.2:g.19723861C>G	GRCh38
NC_000022.10:g.19711384C>G , CM000684.1:g.19711384C>G	GRCh37
NC_000022.9:g.18091384C>G	NCBI36
NG_007974.1:g.5319C>G , LRG_478:g.5319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.18C>G (GP1BB) MANE Select	ENSP00000383382.2:p.Arg6=
ENST00000366425.3:c.18C>G (GP1BB)	ENSP00000383382.2:p.Arg6=
ENST00000431044.5:c.*1103C>G (SEPTIN5)	ENSP00000399685.1:n.*1103C>G
ENST00000455843.5:c.*1103C>G (SEPTIN5)	ENSP00000391731.1:n.*1103C>G
ENST00000470814.1:n.1990C>G (SEPTIN5)
NM_000407.4:c.18C>G , LRG_478t1:c.18C>G (GP1BB)	NP_000398.1:p.Arg6=
NR_037611.1:n.3758C>G
NR_037612.1:n.2262C>G
NM_000407.5:c.18C>G (GP1BB) MANE Select	NP_000398.1:p.Arg6=