Canonical Allele Identifier: CA410677480
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936119706
gnomAD v4: 22-19724265-G-C
MyVariant Identifiers: chr22:g.19711788G>C (hg19) chr22:g.19724265G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724265G>C , CM000684.2:g.19724265G>C GRCh38
NC_000022.10:g.19711788G>C , CM000684.1:g.19711788G>C GRCh37
NC_000022.9:g.18091788G>C NCBI36
NG_007974.1:g.5723G>C , LRG_478:g.5723G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.422G>C (GP1BB) MANE Select ENSP00000383382.2:p.Cys141Ser
ENST00000366425.3:c.422G>C (GP1BB) ENSP00000383382.2:p.Cys141Ser
ENST00000431044.5:c.*1507G>C (SEPTIN5) ENSP00000399685.1:n.*1507G>C
NM_000407.4:c.422G>C , LRG_478t1:c.422G>C (GP1BB) NP_000398.1:p.Cys141Ser
NR_037611.1:n.4162G>C
NR_037612.1:n.2666G>C
NM_000407.5:c.422G>C (GP1BB) MANE Select NP_000398.1:p.Cys141Ser
Search 100 bp 5'
Search 100 bp 3'