Canonical Allele Identifier: CA410676725

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724052-T-C
• MyVariant Identifiers: chr22:g.19711575T>C (hg19) ; chr22:g.19724052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724052T>C , CM000684.2:g.19724052T>C	GRCh38
NC_000022.10:g.19711575T>C , CM000684.1:g.19711575T>C	GRCh37
NC_000022.9:g.18091575T>C	NCBI36
NG_007974.1:g.5510T>C , LRG_478:g.5510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.209T>C (GP1BB) MANE Select	ENSP00000383382.2:p.Leu70Pro
ENST00000366425.3:c.209T>C (GP1BB)	ENSP00000383382.2:p.Leu70Pro
ENST00000431044.5:c.*1294T>C (SEPTIN5)	ENSP00000399685.1:n.*1294T>C
ENST00000455843.5:c.*1294T>C (SEPTIN5)	ENSP00000391731.1:n.*1294T>C
ENST00000470814.1:n.2181T>C (SEPTIN5)
NM_000407.4:c.209T>C , LRG_478t1:c.209T>C (GP1BB)	NP_000398.1:p.Leu70Pro
NR_037611.1:n.3949T>C
NR_037612.1:n.2453T>C
NM_000407.5:c.209T>C (GP1BB) MANE Select	NP_000398.1:p.Leu70Pro