Canonical Allele Identifier: CA2244625809
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933884C= , CM000679.2:g.4933884C= GRCh38
NC_000017.10:g.4837179C= , CM000679.1:g.4837179C= GRCh37
NG_008767.2:g.6590C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1280C= (GP1BA) MANE Select ENSP00000329380.5:p.Thr427=
ENST00000649830.1:c.-888+458G= (CHRNE) ENSP00000496907.1:n.-888+458G=
ENST00000329125.5:c.1280C= (GP1BA) ENSP00000329380.5:p.Thr427=
ENST00000611961.1:c.1272+8C= (GP1BA) ENSP00000484439.1:n.1272+8C=
NM_000173.6:c.1280C= (GP1BA) NP_000164.5:p.Thr427=
NM_000173.7:c.1280C= (GP1BA) MANE Select NP_000164.5:p.Thr427=
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