Canonical Allele Identifier: CA513686750

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1482297881
• gnomAD v2: 22-19711492-C-T
• gnomAD v4: 22-19723969-C-T
• MyVariant Identifiers: chr22:g.19711492C>T (hg19) ; chr22:g.19723969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19723969C>T , CM000684.2:g.19723969C>T	GRCh38
NC_000022.10:g.19711492C>T , CM000684.1:g.19711492C>T	GRCh37
NC_000022.9:g.18091492C>T	NCBI36
NG_007974.1:g.5427C>T , LRG_478:g.5427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.126C>T (GP1BB) MANE Select	ENSP00000383382.2:p.Arg42=
ENST00000366425.3:c.126C>T (GP1BB)	ENSP00000383382.2:p.Arg42=
ENST00000431044.5:c.*1211C>T (SEPTIN5)	ENSP00000399685.1:n.*1211C>T
ENST00000455843.5:c.*1211C>T (SEPTIN5)	ENSP00000391731.1:n.*1211C>T
ENST00000470814.1:n.2098C>T (SEPTIN5)
NM_000407.4:c.126C>T , LRG_478t1:c.126C>T (GP1BB)	NP_000398.1:p.Arg42=
NR_037611.1:n.3866C>T
NR_037612.1:n.2370C>T
NM_000407.5:c.126C>T (GP1BB) MANE Select	NP_000398.1:p.Arg42=