Canonical Allele Identifier: CA638352886
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1193215940
gnomAD v2: 22-19712003-G-T
gnomAD v4: 22-19724480-G-T
MyVariant Identifiers: chr22:g.19712003G>T (hg19) chr22:g.19724480G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724480G>T , CM000684.2:g.19724480G>T GRCh38
NC_000022.10:g.19712003G>T , CM000684.1:g.19712003G>T GRCh37
NC_000022.9:g.18092003G>T NCBI36
NG_007974.1:g.5938G>T , LRG_478:g.5938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*16G>T (GP1BB) MANE Select ENSP00000383382.2:n.*16G>T
ENST00000366425.3:c.*16G>T (GP1BB) ENSP00000383382.2:n.*16G>T
ENST00000431044.5:c.*1722G>T (SEPTIN5) ENSP00000399685.1:n.*1722G>T
NM_000407.4:c.*16G>T , LRG_478t1:c.*16G>T (GP1BB) NP_000398.1:n.*16G>T
NR_037611.1:n.4377G>T
NR_037612.1:n.2881G>T
NM_000407.5:c.*16G>T (GP1BB) MANE Select NP_000398.1:n.*16G>T
Search 100 bp 5'
Search 100 bp 3'