Canonical Allele Identifier: CA410677425
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs953345181
gnomAD v2: 22-19711772-G-C
gnomAD v3: 22-19724249-G-C
gnomAD v4: 22-19724249-G-C
MyVariant Identifiers: chr22:g.19711772G>C (hg19) chr22:g.19724249G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724249G>C , CM000684.2:g.19724249G>C GRCh38
NC_000022.10:g.19711772G>C , CM000684.1:g.19711772G>C GRCh37
NC_000022.9:g.18091772G>C NCBI36
NG_007974.1:g.5707G>C , LRG_478:g.5707G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.406G>C (GP1BB) MANE Select ENSP00000383382.2:p.Glu136Gln
ENST00000366425.3:c.406G>C (GP1BB) ENSP00000383382.2:p.Glu136Gln
ENST00000431044.5:c.*1491G>C (SEPTIN5) ENSP00000399685.1:n.*1491G>C
NM_000407.4:c.406G>C , LRG_478t1:c.406G>C (GP1BB) NP_000398.1:p.Glu136Gln
NR_037611.1:n.4146G>C
NR_037612.1:n.2650G>C
NM_000407.5:c.406G>C (GP1BB) MANE Select NP_000398.1:p.Glu136Gln
Search 100 bp 5'
Search 100 bp 3'