Canonical Allele Identifier: CA322080049
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627068
ClinVar RCV Id: RCV000851789
dbSNP Id: rs1051842719
gnomAD v3: 22-19724277-C-G
gnomAD v4: 22-19724277-C-G
MyVariant Identifiers: chr22:g.19711800C>G (hg19) chr22:g.19724277C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724277C>G , CM000684.2:g.19724277C>G GRCh38
NC_000022.10:g.19711800C>G , CM000684.1:g.19711800C>G GRCh37
NC_000022.9:g.18091800C>G NCBI36
NG_007974.1:g.5735C>G , LRG_478:g.5735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.434C>G (GP1BB) MANE Select ENSP00000383382.2:p.Pro145Arg
ENST00000366425.3:c.434C>G (GP1BB) ENSP00000383382.2:p.Pro145Arg
ENST00000431044.5:c.*1519C>G (SEPTIN5) ENSP00000399685.1:n.*1519C>G
NM_000407.4:c.434C>G , LRG_478t1:c.434C>G (GP1BB) NP_000398.1:p.Pro145Arg
NR_037611.1:n.4174C>G
NR_037612.1:n.2678C>G
NM_000407.5:c.434C>G (GP1BB) MANE Select NP_000398.1:p.Pro145Arg
Search 100 bp 5'
Search 100 bp 3'