Canonical Allele Identifier: CA2396008343
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936107987

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723833A>G , CM000684.2:g.19723833A>G GRCh38
NC_000022.10:g.19711356A>G , CM000684.1:g.19711356A>G GRCh37
NC_000022.9:g.18091356A>G NCBI36
NG_007974.1:g.5291A>G , LRG_478:g.5291A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.11-21A>G (GP1BB) MANE Select ENSP00000383382.2:n.11-21A>G
ENST00000366425.3:c.11-21A>G (GP1BB) ENSP00000383382.2:n.11-21A>G
ENST00000431044.5:c.*1096-21A>G (SEPTIN5) ENSP00000399685.1:n.*1096-21A>G
ENST00000455843.5:c.*1096-21A>G (SEPTIN5) ENSP00000391731.1:n.*1096-21A>G
ENST00000470814.1:n.1983-21A>G (SEPTIN5)
NM_000407.4:c.11-21A>G , LRG_478t1:c.11-21A>G (GP1BB) NP_000398.1:n.11-21A>G
NR_037611.1:n.3751-21A>G
NR_037612.1:n.2255-21A>G
NM_000407.5:c.11-21A>G (GP1BB) MANE Select NP_000398.1:n.11-21A>G