Canonical Allele Identifier: CA2244625598
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933536T= , CM000679.2:g.4933536T= GRCh38
NC_000017.10:g.4836831T= , CM000679.1:g.4836831T= GRCh37
NC_000017.9:g.4777611T= NCBI36
NG_008767.2:g.6242T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.932T= (GP1BA) MANE Select ENSP00000329380.5:p.Val311=
ENST00000649830.1:c.-888+806A= (CHRNE) ENSP00000496907.1:n.-888+806A=
ENST00000329125.5:c.932T= (GP1BA) ENSP00000329380.5:p.Val311=
ENST00000611961.1:c.932T= (GP1BA) ENSP00000484439.1:p.Val311=
NM_000173.6:c.932T= (GP1BA) NP_000164.5:p.Val311=
NM_000173.7:c.932T= (GP1BA) MANE Select NP_000164.5:p.Val311=
Search 100 bp 5'
Search 100 bp 3'