Canonical Allele Identifier: CA2244625742
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933827C= , CM000679.2:g.4933827C= GRCh38
NC_000017.10:g.4837122C= , CM000679.1:g.4837122C= GRCh37
NC_000017.9:g.4777902C= NCBI36
NG_008767.2:g.6533C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1223C= (GP1BA) MANE Select ENSP00000329380.5:p.Pro408=
ENST00000649830.1:c.-888+515G= (CHRNE) ENSP00000496907.1:n.-888+515G=
ENST00000329125.5:c.1223C= (GP1BA) ENSP00000329380.5:p.Pro408=
ENST00000611961.1:c.1223C= (GP1BA) ENSP00000484439.1:p.Pro408=
NM_000173.6:c.1223C= (GP1BA) NP_000164.5:p.Pro408=
NM_000173.7:c.1223C= (GP1BA) MANE Select NP_000164.5:p.Pro408=
Search 100 bp 5'
Search 100 bp 3'