Canonical Allele Identifier: CA2396008664
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724423G= , CM000684.2:g.19724423G= GRCh38
NC_000022.10:g.19711946G= , CM000684.1:g.19711946G= GRCh37
NC_000022.9:g.18091946G= NCBI36
NG_007974.1:g.5881G= , LRG_478:g.5881G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.580G= (GP1BB) MANE Select ENSP00000383382.2:p.Asp194=
ENST00000366425.3:c.580G= (GP1BB) ENSP00000383382.2:p.Asp194=
ENST00000431044.5:c.*1665G= (SEPTIN5) ENSP00000399685.1:n.*1665G=
NM_000407.4:c.580G= , LRG_478t1:c.580G= (GP1BB) NP_000398.1:p.Asp194=
NR_037611.1:n.4320G=
NR_037612.1:n.2824G=
NM_000407.5:c.580G= (GP1BB) MANE Select NP_000398.1:p.Asp194=