Canonical Allele Identifier: CA2655305587
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724471-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724471A>G , CM000684.2:g.19724471A>G GRCh38
NC_000022.10:g.19711994A>G , CM000684.1:g.19711994A>G GRCh37
NC_000022.9:g.18091994A>G NCBI36
NG_007974.1:g.5929A>G , LRG_478:g.5929A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*7A>G (GP1BB) MANE Select ENSP00000383382.2:n.*7A>G
ENST00000366425.3:c.*7A>G (GP1BB) ENSP00000383382.2:n.*7A>G
ENST00000431044.5:c.*1713A>G (SEPTIN5) ENSP00000399685.1:n.*1713A>G
NM_000407.4:c.*7A>G , LRG_478t1:c.*7A>G (GP1BB) NP_000398.1:n.*7A>G
NR_037611.1:n.4368A>G
NR_037612.1:n.2872A>G
NM_000407.5:c.*7A>G (GP1BB) MANE Select NP_000398.1:n.*7A>G
Search 100 bp 5'
Search 100 bp 3'