Canonical Allele Identifier: CA410676831
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724081G>C , CM000684.2:g.19724081G>C GRCh38
NC_000022.10:g.19711604G>C , CM000684.1:g.19711604G>C GRCh37
NC_000022.9:g.18091604G>C NCBI36
NG_007974.1:g.5539G>C , LRG_478:g.5539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.238G>C (GP1BB) MANE Select ENSP00000383382.2:p.Ala80Pro
ENST00000366425.3:c.238G>C (GP1BB) ENSP00000383382.2:p.Ala80Pro
ENST00000431044.5:c.*1323G>C (SEPTIN5) ENSP00000399685.1:n.*1323G>C
ENST00000455843.5:c.*1323G>C (SEPTIN5) ENSP00000391731.1:n.*1323G>C
ENST00000470814.1:n.2210G>C (SEPTIN5)
NM_000407.4:c.238G>C , LRG_478t1:c.238G>C (GP1BB) NP_000398.1:p.Ala80Pro
NR_037611.1:n.3978G>C
NR_037612.1:n.2482G>C
NM_000407.5:c.238G>C (GP1BB) MANE Select NP_000398.1:p.Ala80Pro