Canonical Allele Identifier: CA2244625919
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934000G= , CM000679.2:g.4934000G= GRCh38
NC_000017.10:g.4837295G= , CM000679.1:g.4837295G= GRCh37
NC_000017.9:g.4778036G= NCBI36
NG_008767.2:g.6706G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1396G= (GP1BA) MANE Select ENSP00000329380.5:p.Val466=
ENST00000649830.1:c.-888+342C= (CHRNE) ENSP00000496907.1:n.-888+342C=
ENST00000329125.5:c.1396G= (GP1BA) ENSP00000329380.5:p.Val466=
ENST00000611961.1:c.1318G= (GP1BA) ENSP00000484439.1:p.Val440=
NM_000173.6:c.1396G= (GP1BA) NP_000164.5:p.Val466=
NM_000173.7:c.1396G= (GP1BA) MANE Select NP_000164.5:p.Val466=
Search 100 bp 5'
Search 100 bp 3'