Canonical Allele Identifier: CA410677581

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936121215
• gnomAD v4: 22-19724315-C-A
• MyVariant Identifiers: chr22:g.19711838C>A (hg19) ; chr22:g.19724315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724315C>A , CM000684.2:g.19724315C>A	GRCh38
NC_000022.10:g.19711838C>A , CM000684.1:g.19711838C>A	GRCh37
NC_000022.9:g.18091838C>A	NCBI36
NG_007974.1:g.5773C>A , LRG_478:g.5773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.472C>A (GP1BB) MANE Select	ENSP00000383382.2:p.Leu158Met
ENST00000366425.3:c.472C>A (GP1BB)	ENSP00000383382.2:p.Leu158Met
ENST00000431044.5:c.*1557C>A (SEPTIN5)	ENSP00000399685.1:n.*1557C>A
NM_000407.4:c.472C>A , LRG_478t1:c.472C>A (GP1BB)	NP_000398.1:p.Leu158Met
NR_037611.1:n.4212C>A
NR_037612.1:n.2716C>A
NM_000407.5:c.472C>A (GP1BB) MANE Select	NP_000398.1:p.Leu158Met