Canonical Allele Identifier: CA2396008617
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724362C= , CM000684.2:g.19724362C= GRCh38
NC_000022.10:g.19711885C= , CM000684.1:g.19711885C= GRCh37
NC_000022.9:g.18091885C= NCBI36
NG_007974.1:g.5820C= , LRG_478:g.5820C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.519C= (GP1BB) MANE Select ENSP00000383382.2:p.Cys173=
ENST00000366425.3:c.519C= (GP1BB) ENSP00000383382.2:p.Cys173=
ENST00000431044.5:c.*1604C= (SEPTIN5) ENSP00000399685.1:n.*1604C=
NM_000407.4:c.519C= , LRG_478t1:c.519C= (GP1BB) NP_000398.1:p.Cys173=
NR_037611.1:n.4259C=
NR_037612.1:n.2763C=
NM_000407.5:c.519C= (GP1BB) MANE Select NP_000398.1:p.Cys173=
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