Canonical Allele Identifier: CA410676953
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691254
ClinVar RCV Id: RCV002254240
dbSNP Id: rs1197982563
gnomAD v2: 22-19711634-C-T
gnomAD v4: 22-19724111-C-T
MyVariant Identifiers: chr22:g.19711634C>T (hg19) chr22:g.19724111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724111C>T , CM000684.2:g.19724111C>T GRCh38
NC_000022.10:g.19711634C>T , CM000684.1:g.19711634C>T GRCh37
NC_000022.9:g.18091634C>T NCBI36
NG_007974.1:g.5569C>T , LRG_478:g.5569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.268C>T (GP1BB) MANE Select ENSP00000383382.2:p.Pro90Ser
ENST00000366425.3:c.268C>T (GP1BB) ENSP00000383382.2:p.Pro90Ser
ENST00000431044.5:c.*1353C>T (SEPTIN5) ENSP00000399685.1:n.*1353C>T
ENST00000455843.5:c.*1353C>T (SEPTIN5) ENSP00000391731.1:n.*1353C>T
ENST00000470814.1:n.2240C>T (SEPTIN5)
NM_000407.4:c.268C>T , LRG_478t1:c.268C>T (GP1BB) NP_000398.1:p.Pro90Ser
NR_037611.1:n.4008C>T
NR_037612.1:n.2512C>T
NM_000407.5:c.268C>T (GP1BB) MANE Select NP_000398.1:p.Pro90Ser
Search 100 bp 5'
Search 100 bp 3'