Canonical Allele Identifier: CA322080224
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2637614
ClinVar RCV Id: RCV003404912
dbSNP Id: rs544996817
gnomAD v2: 22-19711998-G-C
gnomAD v3: 22-19724475-G-C
gnomAD v4: 22-19724475-G-C
MyVariant Identifiers: chr22:g.19711998G>C (hg19) chr22:g.19724475G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724475G>C , CM000684.2:g.19724475G>C GRCh38
NC_000022.10:g.19711998G>C , CM000684.1:g.19711998G>C GRCh37
NC_000022.9:g.18091998G>C NCBI36
NG_007974.1:g.5933G>C , LRG_478:g.5933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*11G>C (GP1BB) MANE Select ENSP00000383382.2:n.*11G>C
ENST00000366425.3:c.*11G>C (GP1BB) ENSP00000383382.2:n.*11G>C
ENST00000431044.5:c.*1717G>C (SEPTIN5) ENSP00000399685.1:n.*1717G>C
NM_000407.4:c.*11G>C , LRG_478t1:c.*11G>C (GP1BB) NP_000398.1:n.*11G>C
NR_037611.1:n.4372G>C
NR_037612.1:n.2876G>C
NM_000407.5:c.*11G>C (GP1BB) MANE Select NP_000398.1:n.*11G>C
Search 100 bp 5'
Search 100 bp 3'