Canonical Allele Identifier: CA410677790
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2543666
ClinVar RCV Id: RCV004320617
dbSNP Id: rs1936125083
gnomAD v3: 22-19724427-C-G
gnomAD v4: 22-19724427-C-G
MyVariant Identifiers: chr22:g.19711950C>G (hg19) chr22:g.19724427C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724427C>G , CM000684.2:g.19724427C>G GRCh38
NC_000022.10:g.19711950C>G , CM000684.1:g.19711950C>G GRCh37
NC_000022.9:g.18091950C>G NCBI36
NG_007974.1:g.5885C>G , LRG_478:g.5885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.584C>G (GP1BB) MANE Select ENSP00000383382.2:p.Pro195Arg
ENST00000366425.3:c.584C>G (GP1BB) ENSP00000383382.2:p.Pro195Arg
ENST00000431044.5:c.*1669C>G (SEPTIN5) ENSP00000399685.1:n.*1669C>G
NM_000407.4:c.584C>G , LRG_478t1:c.584C>G (GP1BB) NP_000398.1:p.Pro195Arg
NR_037611.1:n.4324C>G
NR_037612.1:n.2828C>G
NM_000407.5:c.584C>G (GP1BB) MANE Select NP_000398.1:p.Pro195Arg
Search 100 bp 5'
Search 100 bp 3'