Canonical Allele Identifier: CA2396008640
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724389C= , CM000684.2:g.19724389C= GRCh38
NC_000022.10:g.19711912C= , CM000684.1:g.19711912C= GRCh37
NC_000022.9:g.18091912C= NCBI36
NG_007974.1:g.5847C= , LRG_478:g.5847C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.546C= (GP1BB) MANE Select ENSP00000383382.2:p.Ala182=
ENST00000366425.3:c.546C= (GP1BB) ENSP00000383382.2:p.Ala182=
ENST00000431044.5:c.*1631C= (SEPTIN5) ENSP00000399685.1:n.*1631C=
NM_000407.4:c.546C= , LRG_478t1:c.546C= (GP1BB) NP_000398.1:p.Ala182=
NR_037611.1:n.4286C=
NR_037612.1:n.2790C=
NM_000407.5:c.546C= (GP1BB) MANE Select NP_000398.1:p.Ala182=