Canonical Allele Identifier: CA2396008666
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724425C= , CM000684.2:g.19724425C= GRCh38
NC_000022.10:g.19711948C= , CM000684.1:g.19711948C= GRCh37
NC_000022.9:g.18091948C= NCBI36
NG_007974.1:g.5883C= , LRG_478:g.5883C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.582C= (GP1BB) MANE Select ENSP00000383382.2:p.Asp194=
ENST00000366425.3:c.582C= (GP1BB) ENSP00000383382.2:p.Asp194=
ENST00000431044.5:c.*1667C= (SEPTIN5) ENSP00000399685.1:n.*1667C=
NM_000407.4:c.582C= , LRG_478t1:c.582C= (GP1BB) NP_000398.1:p.Asp194=
NR_037611.1:n.4322C=
NR_037612.1:n.2826C=
NM_000407.5:c.582C= (GP1BB) MANE Select NP_000398.1:p.Asp194=