Canonical Allele Identifier: CA410676789
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724070A>G , CM000684.2:g.19724070A>G GRCh38
NC_000022.10:g.19711593A>G , CM000684.1:g.19711593A>G GRCh37
NC_000022.9:g.18091593A>G NCBI36
NG_007974.1:g.5528A>G , LRG_478:g.5528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.227A>G (GP1BB) MANE Select ENSP00000383382.2:p.Asp76Gly
ENST00000366425.3:c.227A>G (GP1BB) ENSP00000383382.2:p.Asp76Gly
ENST00000431044.5:c.*1312A>G (SEPTIN5) ENSP00000399685.1:n.*1312A>G
ENST00000455843.5:c.*1312A>G (SEPTIN5) ENSP00000391731.1:n.*1312A>G
ENST00000470814.1:n.2199A>G (SEPTIN5)
NM_000407.4:c.227A>G , LRG_478t1:c.227A>G (GP1BB) NP_000398.1:p.Asp76Gly
NR_037611.1:n.3967A>G
NR_037612.1:n.2471A>G
NM_000407.5:c.227A>G (GP1BB) MANE Select NP_000398.1:p.Asp76Gly