Canonical Allele Identifier: CA410677532
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724289-G-T
MyVariant Identifiers: chr22:g.19711812G>T (hg19) chr22:g.19724289G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724289G>T , CM000684.2:g.19724289G>T GRCh38
NC_000022.10:g.19711812G>T , CM000684.1:g.19711812G>T GRCh37
NC_000022.9:g.18091812G>T NCBI36
NG_007974.1:g.5747G>T , LRG_478:g.5747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.446G>T (GP1BB) MANE Select ENSP00000383382.2:p.Gly149Val
ENST00000366425.3:c.446G>T (GP1BB) ENSP00000383382.2:p.Gly149Val
ENST00000431044.5:c.*1531G>T (SEPTIN5) ENSP00000399685.1:n.*1531G>T
NM_000407.4:c.446G>T , LRG_478t1:c.446G>T (GP1BB) NP_000398.1:p.Gly149Val
NR_037611.1:n.4186G>T
NR_037612.1:n.2690G>T
NM_000407.5:c.446G>T (GP1BB) MANE Select NP_000398.1:p.Gly149Val
Search 100 bp 5'
Search 100 bp 3'