Canonical Allele Identifier: CA410677507
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2432237
ClinVar RCV Id: RCV003135430 RCV003396903
dbSNP Id: rs1936120179
gnomAD v4: 22-19724279-C-T
MyVariant Identifiers: chr22:g.19711802C>T (hg19) chr22:g.19724279C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724279C>T , CM000684.2:g.19724279C>T GRCh38
NC_000022.10:g.19711802C>T , CM000684.1:g.19711802C>T GRCh37
NC_000022.9:g.18091802C>T NCBI36
NG_007974.1:g.5737C>T , LRG_478:g.5737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.436C>T (GP1BB) MANE Select ENSP00000383382.2:p.Leu146Phe
ENST00000366425.3:c.436C>T (GP1BB) ENSP00000383382.2:p.Leu146Phe
ENST00000431044.5:c.*1521C>T (SEPTIN5) ENSP00000399685.1:n.*1521C>T
NM_000407.4:c.436C>T , LRG_478t1:c.436C>T (GP1BB) NP_000398.1:p.Leu146Phe
NR_037611.1:n.4176C>T
NR_037612.1:n.2680C>T
NM_000407.5:c.436C>T (GP1BB) MANE Select NP_000398.1:p.Leu146Phe
Search 100 bp 5'
Search 100 bp 3'