Canonical Allele Identifier: CA410677459
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724259C>G , CM000684.2:g.19724259C>G GRCh38
NC_000022.10:g.19711782C>G , CM000684.1:g.19711782C>G GRCh37
NC_000022.9:g.18091782C>G NCBI36
NG_007974.1:g.5717C>G , LRG_478:g.5717C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.416C>G (GP1BB) MANE Select ENSP00000383382.2:p.Ala139Gly
ENST00000366425.3:c.416C>G (GP1BB) ENSP00000383382.2:p.Ala139Gly
ENST00000431044.5:c.*1501C>G (SEPTIN5) ENSP00000399685.1:n.*1501C>G
NM_000407.4:c.416C>G , LRG_478t1:c.416C>G (GP1BB) NP_000398.1:p.Ala139Gly
NR_037611.1:n.4156C>G
NR_037612.1:n.2660C>G
NM_000407.5:c.416C>G (GP1BB) MANE Select NP_000398.1:p.Ala139Gly