Canonical Allele Identifier: CA751435244
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1487846724
gnomAD v3: 22-19724468-G-A
gnomAD v4: 22-19724468-G-A
MyVariant Identifiers: chr22:g.19711991G>A (hg19) chr22:g.19724468G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724468G>A , CM000684.2:g.19724468G>A GRCh38
NC_000022.10:g.19711991G>A , CM000684.1:g.19711991G>A GRCh37
NC_000022.9:g.18091991G>A NCBI36
NG_007974.1:g.5926G>A , LRG_478:g.5926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*4G>A (GP1BB) MANE Select ENSP00000383382.2:n.*4G>A
ENST00000366425.3:c.*4G>A (GP1BB) ENSP00000383382.2:n.*4G>A
ENST00000431044.5:c.*1710G>A (SEPTIN5) ENSP00000399685.1:n.*1710G>A
NM_000407.4:c.*4G>A , LRG_478t1:c.*4G>A (GP1BB) NP_000398.1:n.*4G>A
NR_037611.1:n.4365G>A
NR_037612.1:n.2869G>A
NM_000407.5:c.*4G>A (GP1BB) MANE Select NP_000398.1:n.*4G>A
Search 100 bp 5'
Search 100 bp 3'