Canonical Allele Identifier: CA410676403
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936111015
gnomAD v4: 22-19723952-G-A
COSMIC: COSM6374131
MyVariant Identifiers: chr22:g.19711475G>A (hg19) chr22:g.19723952G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19723952G>A , CM000684.2:g.19723952G>A GRCh38
NC_000022.10:g.19711475G>A , CM000684.1:g.19711475G>A GRCh37
NC_000022.9:g.18091475G>A NCBI36
NG_007974.1:g.5410G>A , LRG_478:g.5410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.109G>A (GP1BB) MANE Select ENSP00000383382.2:p.Val37Met
ENST00000366425.3:c.109G>A (GP1BB) ENSP00000383382.2:p.Val37Met
ENST00000431044.5:c.*1194G>A (SEPTIN5) ENSP00000399685.1:n.*1194G>A
ENST00000455843.5:c.*1194G>A (SEPTIN5) ENSP00000391731.1:n.*1194G>A
ENST00000470814.1:n.2081G>A (SEPTIN5)
NM_000407.4:c.109G>A , LRG_478t1:c.109G>A (GP1BB) NP_000398.1:p.Val37Met
NR_037611.1:n.3849G>A
NR_037612.1:n.2353G>A
NM_000407.5:c.109G>A (GP1BB) MANE Select NP_000398.1:p.Val37Met
Search 100 bp 5'
Search 100 bp 3'