Canonical Allele Identifier: CA322080041
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs746077893
gnomAD v3: 22-19724255-C-T
gnomAD v4: 22-19724255-C-T
MyVariant Identifiers: chr22:g.19711778C>T (hg19) chr22:g.19724255C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724255C>T , CM000684.2:g.19724255C>T GRCh38
NC_000022.10:g.19711778C>T , CM000684.1:g.19711778C>T GRCh37
NC_000022.9:g.18091778C>T NCBI36
NG_007974.1:g.5713C>T , LRG_478:g.5713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.412C>T (GP1BB) MANE Select ENSP00000383382.2:p.Arg138Cys
ENST00000366425.3:c.412C>T (GP1BB) ENSP00000383382.2:p.Arg138Cys
ENST00000431044.5:c.*1497C>T (SEPTIN5) ENSP00000399685.1:n.*1497C>T
NM_000407.4:c.412C>T , LRG_478t1:c.412C>T (GP1BB) NP_000398.1:p.Arg138Cys
NR_037611.1:n.4152C>T
NR_037612.1:n.2656C>T
NM_000407.5:c.412C>T (GP1BB) MANE Select NP_000398.1:p.Arg138Cys
Search 100 bp 5'
Search 100 bp 3'