Canonical Allele Identifier: CA410677769
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936124660
gnomAD v3: 22-19724417-C-G
gnomAD v4: 22-19724417-C-G
MyVariant Identifiers: chr22:g.19711940C>G (hg19) chr22:g.19724417C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724417C>G , CM000684.2:g.19724417C>G GRCh38
NC_000022.10:g.19711940C>G , CM000684.1:g.19711940C>G GRCh37
NC_000022.9:g.18091940C>G NCBI36
NG_007974.1:g.5875C>G , LRG_478:g.5875C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.574C>G (GP1BB) MANE Select ENSP00000383382.2:p.Leu192Val
ENST00000366425.3:c.574C>G (GP1BB) ENSP00000383382.2:p.Leu192Val
ENST00000431044.5:c.*1659C>G (SEPTIN5) ENSP00000399685.1:n.*1659C>G
NM_000407.4:c.574C>G , LRG_478t1:c.574C>G (GP1BB) NP_000398.1:p.Leu192Val
NR_037611.1:n.4314C>G
NR_037612.1:n.2818C>G
NM_000407.5:c.574C>G (GP1BB) MANE Select NP_000398.1:p.Leu192Val
Search 100 bp 5'
Search 100 bp 3'