Canonical Allele Identifier: CA2244625940
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934037T= , CM000679.2:g.4934037T= GRCh38
NC_000017.10:g.4837332T= , CM000679.1:g.4837332T= GRCh37
NC_000017.9:g.4778073T= NCBI36
NG_008767.2:g.6743T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1433T= (GP1BA) MANE Select ENSP00000329380.5:p.Phe478=
ENST00000649830.1:c.-888+305A= (CHRNE) ENSP00000496907.1:n.-888+305A=
ENST00000329125.5:c.1433T= (GP1BA) ENSP00000329380.5:p.Phe478=
ENST00000611961.1:c.1355T= (GP1BA) ENSP00000484439.1:p.Phe452=
NM_000173.6:c.1433T= (GP1BA) NP_000164.5:p.Phe478=
NM_000173.7:c.1433T= (GP1BA) MANE Select NP_000164.5:p.Phe478=
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