Canonical Allele Identifier: CA322080107
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs573707706
gnomAD v3: 22-19724363-C-T
gnomAD v4: 22-19724363-C-T
MyVariant Identifiers: chr22:g.19711886C>T (hg19) chr22:g.19724363C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724363C>T , CM000684.2:g.19724363C>T GRCh38
NC_000022.10:g.19711886C>T , CM000684.1:g.19711886C>T GRCh37
NC_000022.9:g.18091886C>T NCBI36
NG_007974.1:g.5821C>T , LRG_478:g.5821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.520C>T (GP1BB) MANE Select ENSP00000383382.2:p.Arg174Cys
ENST00000366425.3:c.520C>T (GP1BB) ENSP00000383382.2:p.Arg174Cys
ENST00000431044.5:c.*1605C>T (SEPTIN5) ENSP00000399685.1:n.*1605C>T
NM_000407.4:c.520C>T , LRG_478t1:c.520C>T (GP1BB) NP_000398.1:p.Arg174Cys
NR_037611.1:n.4260C>T
NR_037612.1:n.2764C>T
NM_000407.5:c.520C>T (GP1BB) MANE Select NP_000398.1:p.Arg174Cys
Search 100 bp 5'
Search 100 bp 3'