Canonical Allele Identifier: CA513687021
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

gnomAD v4: 22-19724293-G-T
MyVariant Identifiers: chr22:g.19711816G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724293G>T , CM000684.2:g.19724293G>T GRCh38
NC_000022.10:g.19711816G>T , CM000684.1:g.19711816G>T GRCh37
NC_000022.9:g.18091816G>T NCBI36
NG_007974.1:g.5751G>T , LRG_478:g.5751G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.450G>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala150=
ENST00000366425.3:c.450G>T (GP1BB) ENSP00000383382.2:p.Ala150=
ENST00000431044.5:c.*1535G>T (SEPTIN5) ENSP00000399685.1:n.*1535G>T
NM_000407.4:c.450G>T , LRG_478t1:c.450G>T (GP1BB) NP_000398.1:p.Ala150=
NR_037611.1:n.4190G>T
NR_037612.1:n.2694G>T
NM_000407.5:c.450G>T (GP1BB) MANE Select NP_000398.1:p.Ala150=
Search 100 bp 5'
Search 100 bp 3'