Canonical Allele Identifier: CA2396008615
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724358T= , CM000684.2:g.19724358T= GRCh38
NC_000022.10:g.19711881T= , CM000684.1:g.19711881T= GRCh37
NC_000022.9:g.18091881T= NCBI36
NG_007974.1:g.5816T= , LRG_478:g.5816T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.515T= (GP1BB) MANE Select ENSP00000383382.2:p.Leu172=
ENST00000366425.3:c.515T= (GP1BB) ENSP00000383382.2:p.Leu172=
ENST00000431044.5:c.*1600T= (SEPTIN5) ENSP00000399685.1:n.*1600T=
NM_000407.4:c.515T= , LRG_478t1:c.515T= (GP1BB) NP_000398.1:p.Leu172=
NR_037611.1:n.4255T=
NR_037612.1:n.2759T=
NM_000407.5:c.515T= (GP1BB) MANE Select NP_000398.1:p.Leu172=
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