Canonical Allele Identifier: CA410677053

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936115985
• gnomAD v4: 22-19724136-T-C
• MyVariant Identifiers: chr22:g.19711659T>C (hg19) ; chr22:g.19724136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724136T>C , CM000684.2:g.19724136T>C	GRCh38
NC_000022.10:g.19711659T>C , CM000684.1:g.19711659T>C	GRCh37
NC_000022.9:g.18091659T>C	NCBI36
NG_007974.1:g.5594T>C , LRG_478:g.5594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.293T>C (GP1BB) MANE Select	ENSP00000383382.2:p.Val98Ala
ENST00000366425.3:c.293T>C (GP1BB)	ENSP00000383382.2:p.Val98Ala
ENST00000431044.5:c.*1378T>C (SEPTIN5)	ENSP00000399685.1:n.*1378T>C
ENST00000455843.5:c.*1378T>C (SEPTIN5)	ENSP00000391731.1:n.*1378T>C
ENST00000470814.1:n.2265T>C (SEPTIN5)
NM_000407.4:c.293T>C , LRG_478t1:c.293T>C (GP1BB)	NP_000398.1:p.Val98Ala
NR_037611.1:n.4033T>C
NR_037612.1:n.2537T>C
NM_000407.5:c.293T>C (GP1BB) MANE Select	NP_000398.1:p.Val98Ala