Canonical Allele Identifier: CA410677820
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19711965G>A (hg19) chr22:g.19724442G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724442G>A , CM000684.2:g.19724442G>A GRCh38
NC_000022.10:g.19711965G>A , CM000684.1:g.19711965G>A GRCh37
NC_000022.9:g.18091965G>A NCBI36
NG_007974.1:g.5900G>A , LRG_478:g.5900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.599G>A (GP1BB) MANE Select ENSP00000383382.2:p.Arg200Gln
ENST00000366425.3:c.599G>A (GP1BB) ENSP00000383382.2:p.Arg200Gln
ENST00000431044.5:c.*1684G>A (SEPTIN5) ENSP00000399685.1:n.*1684G>A
NM_000407.4:c.599G>A , LRG_478t1:c.599G>A (GP1BB) NP_000398.1:p.Arg200Gln
NR_037611.1:n.4339G>A
NR_037612.1:n.2843G>A
NM_000407.5:c.599G>A (GP1BB) MANE Select NP_000398.1:p.Arg200Gln
Search 100 bp 5'
Search 100 bp 3'