Canonical Allele Identifier: CA2396008711
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1193215940
gnomAD v4: 22-19724480-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724480G>A , CM000684.2:g.19724480G>A GRCh38
NC_000022.10:g.19712003G>A , CM000684.1:g.19712003G>A GRCh37
NC_000022.9:g.18092003G>A NCBI36
NG_007974.1:g.5938G>A , LRG_478:g.5938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*16G>A (GP1BB) MANE Select ENSP00000383382.2:n.*16G>A
ENST00000366425.3:c.*16G>A (GP1BB) ENSP00000383382.2:n.*16G>A
ENST00000431044.5:c.*1722G>A (SEPTIN5) ENSP00000399685.1:n.*1722G>A
NM_000407.4:c.*16G>A , LRG_478t1:c.*16G>A (GP1BB) NP_000398.1:n.*16G>A
NR_037611.1:n.4377G>A
NR_037612.1:n.2881G>A
NM_000407.5:c.*16G>A (GP1BB) MANE Select NP_000398.1:n.*16G>A
Search 100 bp 5'
Search 100 bp 3'