Canonical Allele Identifier: CA410677536
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724291G>T , CM000684.2:g.19724291G>T GRCh38
NC_000022.10:g.19711814G>T , CM000684.1:g.19711814G>T GRCh37
NC_000022.9:g.18091814G>T NCBI36
NG_007974.1:g.5749G>T , LRG_478:g.5749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.448G>T (GP1BB) MANE Select ENSP00000383382.2:p.Ala150Ser
ENST00000366425.3:c.448G>T (GP1BB) ENSP00000383382.2:p.Ala150Ser
ENST00000431044.5:c.*1533G>T (SEPTIN5) ENSP00000399685.1:n.*1533G>T
NM_000407.4:c.448G>T , LRG_478t1:c.448G>T (GP1BB) NP_000398.1:p.Ala150Ser
NR_037611.1:n.4188G>T
NR_037612.1:n.2692G>T
NM_000407.5:c.448G>T (GP1BB) MANE Select NP_000398.1:p.Ala150Ser