Canonical Allele Identifier: CA397320781
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1567648456
gnomAD v2: 17-4837186-G-T
gnomAD v4: 17-4933891-G-T
MyVariant Identifiers: chr17:g.4837186G>T (hg19) chr17:g.4837186_4837217delinsTCCCGCCCCCAGCCCGACCACCCCAGAGCCCA (hg19) chr17:g.4933891G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933891G>T , CM000679.2:g.4933891G>T GRCh38
NC_000017.10:g.4837186G>T , CM000679.1:g.4837186G>T GRCh37
NG_008767.2:g.6597G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1287G>T (GP1BA) MANE Select ENSP00000329380.5:p.Glu429Asp
ENST00000649830.1:c.-888+451C>A (CHRNE) ENSP00000496907.1:n.-888+451C>A
ENST00000329125.5:c.1287G>T (GP1BA) ENSP00000329380.5:p.Glu429Asp
ENST00000611961.1:c.1272+15G>T (GP1BA) ENSP00000484439.1:n.1272+15G>T
NM_000173.6:c.1287G>T (GP1BA) NP_000164.5:p.Glu429Asp
NM_000173.7:c.1287G>T (GP1BA) MANE Select NP_000164.5:p.Glu429Asp
Search 100 bp 5'
Search 100 bp 3'