Canonical Allele Identifier: CA2739746978
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723713T>A , CM000684.2:g.19723713T>A GRCh38
NC_000022.10:g.19711236T>A , CM000684.1:g.19711236T>A GRCh37
NC_000022.9:g.18091236T>A NCBI36
NG_007974.1:g.5171T>A , LRG_478:g.5171T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.10+134T>A (GP1BB) MANE Select ENSP00000383382.2:n.10+134T>A
ENST00000366425.3:c.10+134T>A (GP1BB) ENSP00000383382.2:n.10+134T>A
ENST00000431044.5:c.*1095+134T>A (SEPTIN5) ENSP00000399685.1:n.*1095+134T>A
ENST00000455843.5:c.*1095+134T>A (SEPTIN5) ENSP00000391731.1:n.*1095+134T>A
ENST00000470814.1:n.1982+134T>A (SEPTIN5)
NM_000407.4:c.10+134T>A , LRG_478t1:c.10+134T>A (GP1BB) NP_000398.1:n.10+134T>A
NR_037611.1:n.3750+134T>A
NR_037612.1:n.2254+134T>A
NM_000407.5:c.10+134T>A (GP1BB) MANE Select NP_000398.1:n.10+134T>A
Search 100 bp 5'
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