Canonical Allele Identifier: CA410676875
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1191575344

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724093G>T , CM000684.2:g.19724093G>T GRCh38
NC_000022.10:g.19711616G>T , CM000684.1:g.19711616G>T GRCh37
NC_000022.9:g.18091616G>T NCBI36
NG_007974.1:g.5551G>T , LRG_478:g.5551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.250G>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala84Ser
ENST00000366425.3:c.250G>T (GP1BB) ENSP00000383382.2:p.Ala84Ser
ENST00000431044.5:c.*1335G>T (SEPTIN5) ENSP00000399685.1:n.*1335G>T
ENST00000455843.5:c.*1335G>T (SEPTIN5) ENSP00000391731.1:n.*1335G>T
ENST00000470814.1:n.2222G>T (SEPTIN5)
NM_000407.4:c.250G>T , LRG_478t1:c.250G>T (GP1BB) NP_000398.1:p.Ala84Ser
NR_037611.1:n.3990G>T
NR_037612.1:n.2494G>T
NM_000407.5:c.250G>T (GP1BB) MANE Select NP_000398.1:p.Ala84Ser