Canonical Allele Identifier: CA2655304731

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19723706-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723706T>G , CM000684.2:g.19723706T>G	GRCh38
NC_000022.10:g.19711229T>G , CM000684.1:g.19711229T>G	GRCh37
NC_000022.9:g.18091229T>G	NCBI36
NG_007974.1:g.5164T>G , LRG_478:g.5164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.10+127T>G (GP1BB) MANE Select	ENSP00000383382.2:n.10+127T>G
ENST00000366425.3:c.10+127T>G (GP1BB)	ENSP00000383382.2:n.10+127T>G
ENST00000431044.5:c.*1095+127T>G (SEPTIN5)	ENSP00000399685.1:n.*1095+127T>G
ENST00000455843.5:c.*1095+127T>G (SEPTIN5)	ENSP00000391731.1:n.*1095+127T>G
ENST00000470814.1:n.1982+127T>G (SEPTIN5)
NM_000407.4:c.10+127T>G , LRG_478t1:c.10+127T>G (GP1BB)	NP_000398.1:n.10+127T>G
NR_037611.1:n.3750+127T>G
NR_037612.1:n.2254+127T>G
NM_000407.5:c.10+127T>G (GP1BB) MANE Select	NP_000398.1:n.10+127T>G