Canonical Allele Identifier: CA513368950
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724404-A-C
MyVariant Identifiers: chr22:g.19711927A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724404A>C , CM000684.2:g.19724404A>C GRCh38
NC_000022.10:g.19711927A>C , CM000684.1:g.19711927A>C GRCh37
NC_000022.9:g.18091927A>C NCBI36
NG_007974.1:g.5862A>C , LRG_478:g.5862A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.561A>C (GP1BB) MANE Select ENSP00000383382.2:p.Ala187=
ENST00000366425.3:c.561A>C (GP1BB) ENSP00000383382.2:p.Ala187=
ENST00000431044.5:c.*1646A>C (SEPTIN5) ENSP00000399685.1:n.*1646A>C
NM_000407.4:c.561A>C , LRG_478t1:c.561A>C (GP1BB) NP_000398.1:p.Ala187=
NR_037611.1:n.4301A>C
NR_037612.1:n.2805A>C
NM_000407.5:c.561A>C (GP1BB) MANE Select NP_000398.1:p.Ala187=
Search 100 bp 5'
Search 100 bp 3'