Canonical Allele Identifier: CA410677728
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2543665
ClinVar RCV Id: RCV004320616
dbSNP Id: rs1020846965
gnomAD v3: 22-19724394-C-A
gnomAD v4: 22-19724394-C-A
MyVariant Identifiers: chr22:g.19711917C>A (hg19) chr22:g.19724394C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724394C>A , CM000684.2:g.19724394C>A GRCh38
NC_000022.10:g.19711917C>A , CM000684.1:g.19711917C>A GRCh37
NC_000022.9:g.18091917C>A NCBI36
NG_007974.1:g.5852C>A , LRG_478:g.5852C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.551C>A (GP1BB) MANE Select ENSP00000383382.2:p.Ala184Asp
ENST00000366425.3:c.551C>A (GP1BB) ENSP00000383382.2:p.Ala184Asp
ENST00000431044.5:c.*1636C>A (SEPTIN5) ENSP00000399685.1:n.*1636C>A
NM_000407.4:c.551C>A , LRG_478t1:c.551C>A (GP1BB) NP_000398.1:p.Ala184Asp
NR_037611.1:n.4291C>A
NR_037612.1:n.2795C>A
NM_000407.5:c.551C>A (GP1BB) MANE Select NP_000398.1:p.Ala184Asp
Search 100 bp 5'
Search 100 bp 3'