Canonical Allele Identifier: CA410677580
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711836T>A (hg19) chr22:g.19724313T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724313T>A , CM000684.2:g.19724313T>A GRCh38
NC_000022.10:g.19711836T>A , CM000684.1:g.19711836T>A GRCh37
NC_000022.9:g.18091836T>A NCBI36
NG_007974.1:g.5771T>A , LRG_478:g.5771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.470T>A (GP1BB) MANE Select ENSP00000383382.2:p.Leu157Gln
ENST00000366425.3:c.470T>A (GP1BB) ENSP00000383382.2:p.Leu157Gln
ENST00000431044.5:c.*1555T>A (SEPTIN5) ENSP00000399685.1:n.*1555T>A
NM_000407.4:c.470T>A , LRG_478t1:c.470T>A (GP1BB) NP_000398.1:p.Leu157Gln
NR_037611.1:n.4210T>A
NR_037612.1:n.2714T>A
NM_000407.5:c.470T>A (GP1BB) MANE Select NP_000398.1:p.Leu157Gln
Search 100 bp 5'
Search 100 bp 3'