Canonical Allele Identifier: CA410677139
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724169A>G , CM000684.2:g.19724169A>G GRCh38
NC_000022.10:g.19711692A>G , CM000684.1:g.19711692A>G GRCh37
NC_000022.9:g.18091692A>G NCBI36
NG_007974.1:g.5627A>G , LRG_478:g.5627A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.326A>G (GP1BB) MANE Select ENSP00000383382.2:p.Glu109Gly
ENST00000366425.3:c.326A>G (GP1BB) ENSP00000383382.2:p.Glu109Gly
ENST00000431044.5:c.*1411A>G (SEPTIN5) ENSP00000399685.1:n.*1411A>G
ENST00000455843.5:c.*1411A>G (SEPTIN5) ENSP00000391731.1:n.*1411A>G
ENST00000470814.1:n.2298A>G (SEPTIN5)
NM_000407.4:c.326A>G , LRG_478t1:c.326A>G (GP1BB) NP_000398.1:p.Glu109Gly
NR_037611.1:n.4066A>G
NR_037612.1:n.2570A>G
NM_000407.5:c.326A>G (GP1BB) MANE Select NP_000398.1:p.Glu109Gly