Canonical Allele Identifier: CA513686944

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724203-G-T
• MyVariant Identifiers: chr22:g.19711726G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724203G>T , CM000684.2:g.19724203G>T	GRCh38
NC_000022.10:g.19711726G>T , CM000684.1:g.19711726G>T	GRCh37
NC_000022.9:g.18091726G>T	NCBI36
NG_007974.1:g.5661G>T , LRG_478:g.5661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.360G>T (GP1BB) MANE Select	ENSP00000383382.2:p.Ala120=
ENST00000366425.3:c.360G>T (GP1BB)	ENSP00000383382.2:p.Ala120=
ENST00000431044.5:c.*1445G>T (SEPTIN5)	ENSP00000399685.1:n.*1445G>T
ENST00000455843.5:c.*1445G>T (SEPTIN5)	ENSP00000391731.1:n.*1445G>T
ENST00000470814.1:n.2332G>T (SEPTIN5)
NM_000407.4:c.360G>T , LRG_478t1:c.360G>T (GP1BB)	NP_000398.1:p.Ala120=
NR_037611.1:n.4100G>T
NR_037612.1:n.2604G>T
NM_000407.5:c.360G>T (GP1BB) MANE Select	NP_000398.1:p.Ala120=