Canonical Allele Identifier: CA2655305600
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724481-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724481T>C , CM000684.2:g.19724481T>C GRCh38
NC_000022.10:g.19712004T>C , CM000684.1:g.19712004T>C GRCh37
NC_000022.9:g.18092004T>C NCBI36
NG_007974.1:g.5939T>C , LRG_478:g.5939T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*17T>C (GP1BB) MANE Select ENSP00000383382.2:n.*17T>C
ENST00000366425.3:c.*17T>C (GP1BB) ENSP00000383382.2:n.*17T>C
ENST00000431044.5:c.*1723T>C (SEPTIN5) ENSP00000399685.1:n.*1723T>C
NM_000407.4:c.*17T>C , LRG_478t1:c.*17T>C (GP1BB) NP_000398.1:n.*17T>C
NR_037611.1:n.4378T>C
NR_037612.1:n.2882T>C
NM_000407.5:c.*17T>C (GP1BB) MANE Select NP_000398.1:n.*17T>C
Search 100 bp 5'
Search 100 bp 3'