Canonical Allele Identifier: CA513687049
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1406212438
gnomAD v4: 22-19724323-T-C
MyVariant Identifiers: chr22:g.19711846T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724323T>C , CM000684.2:g.19724323T>C GRCh38
NC_000022.10:g.19711846T>C , CM000684.1:g.19711846T>C GRCh37
NC_000022.9:g.18091846T>C NCBI36
NG_007974.1:g.5781T>C , LRG_478:g.5781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.480T>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu160=
ENST00000366425.3:c.480T>C (GP1BB) ENSP00000383382.2:p.Leu160=
ENST00000431044.5:c.*1565T>C (SEPTIN5) ENSP00000399685.1:n.*1565T>C
NM_000407.4:c.480T>C , LRG_478t1:c.480T>C (GP1BB) NP_000398.1:p.Leu160=
NR_037611.1:n.4220T>C
NR_037612.1:n.2724T>C
NM_000407.5:c.480T>C (GP1BB) MANE Select NP_000398.1:p.Leu160=
Search 100 bp 5'
Search 100 bp 3'