Canonical Allele Identifier: CA2396008616
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724359G= , CM000684.2:g.19724359G= GRCh38
NC_000022.10:g.19711882G= , CM000684.1:g.19711882G= GRCh37
NC_000022.9:g.18091882G= NCBI36
NG_007974.1:g.5817G= , LRG_478:g.5817G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.516G= (GP1BB) MANE Select ENSP00000383382.2:p.Leu172=
ENST00000366425.3:c.516G= (GP1BB) ENSP00000383382.2:p.Leu172=
ENST00000431044.5:c.*1601G= (SEPTIN5) ENSP00000399685.1:n.*1601G=
NM_000407.4:c.516G= , LRG_478t1:c.516G= (GP1BB) NP_000398.1:p.Leu172=
NR_037611.1:n.4256G=
NR_037612.1:n.2760G=
NM_000407.5:c.516G= (GP1BB) MANE Select NP_000398.1:p.Leu172=
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