Canonical Allele Identifier: CA410677754
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1238007919
gnomAD v2: 22-19711932-G-A
gnomAD v4: 22-19724409-G-A
MyVariant Identifiers: chr22:g.19711932G>A (hg19) chr22:g.19724409G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724409G>A , CM000684.2:g.19724409G>A GRCh38
NC_000022.10:g.19711932G>A , CM000684.1:g.19711932G>A GRCh37
NC_000022.9:g.18091932G>A NCBI36
NG_007974.1:g.5867G>A , LRG_478:g.5867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.566G>A (GP1BB) MANE Select ENSP00000383382.2:p.Arg189Gln
ENST00000366425.3:c.566G>A (GP1BB) ENSP00000383382.2:p.Arg189Gln
ENST00000431044.5:c.*1651G>A (SEPTIN5) ENSP00000399685.1:n.*1651G>A
NM_000407.4:c.566G>A , LRG_478t1:c.566G>A (GP1BB) NP_000398.1:p.Arg189Gln
NR_037611.1:n.4306G>A
NR_037612.1:n.2810G>A
NM_000407.5:c.566G>A (GP1BB) MANE Select NP_000398.1:p.Arg189Gln
Search 100 bp 5'
Search 100 bp 3'