Canonical Allele Identifier: CA410677509
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1936120229

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724280T>C , CM000684.2:g.19724280T>C GRCh38
NC_000022.10:g.19711803T>C , CM000684.1:g.19711803T>C GRCh37
NC_000022.9:g.18091803T>C NCBI36
NG_007974.1:g.5738T>C , LRG_478:g.5738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.437T>C (GP1BB) MANE Select ENSP00000383382.2:p.Leu146Pro
ENST00000366425.3:c.437T>C (GP1BB) ENSP00000383382.2:p.Leu146Pro
ENST00000431044.5:c.*1522T>C (SEPTIN5) ENSP00000399685.1:n.*1522T>C
NM_000407.4:c.437T>C , LRG_478t1:c.437T>C (GP1BB) NP_000398.1:p.Leu146Pro
NR_037611.1:n.4177T>C
NR_037612.1:n.2681T>C
NM_000407.5:c.437T>C (GP1BB) MANE Select NP_000398.1:p.Leu146Pro