Canonical Allele Identifier: CA10102331
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034192
ClinVar RCV Id: RCV001336844 RCV004035815
dbSNP Id: rs755380704
ExAC: 22:19711581 C / T
gnomAD v2: 22-19711581-C-T
gnomAD v3: 22-19724058-C-T
gnomAD v4: 22-19724058-C-T
MyVariant Identifiers: chr22:g.19711581C>T (hg19) chr22:g.19724058C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724058C>T , CM000684.2:g.19724058C>T GRCh38
NC_000022.10:g.19711581C>T , CM000684.1:g.19711581C>T GRCh37
NC_000022.9:g.18091581C>T NCBI36
NG_007974.1:g.5516C>T , LRG_478:g.5516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.215C>T (GP1BB) MANE Select ENSP00000383382.2:p.Pro72Leu
ENST00000366425.3:c.215C>T (GP1BB) ENSP00000383382.2:p.Pro72Leu
ENST00000431044.5:c.*1300C>T (SEPTIN5) ENSP00000399685.1:n.*1300C>T
ENST00000455843.5:c.*1300C>T (SEPTIN5) ENSP00000391731.1:n.*1300C>T
ENST00000470814.1:n.2187C>T (SEPTIN5)
NM_000407.4:c.215C>T , LRG_478t1:c.215C>T (GP1BB) NP_000398.1:p.Pro72Leu
NR_037611.1:n.3955C>T
NR_037612.1:n.2459C>T
NM_000407.5:c.215C>T (GP1BB) MANE Select NP_000398.1:p.Pro72Leu
Search 100 bp 5'
Search 100 bp 3'