Canonical Allele Identifier: CA397320772
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1305100338
gnomAD v2: 17-4837184-G-C
gnomAD v4: 17-4933889-G-C
MyVariant Identifiers: chr17:g.4837184G>C (hg19) chr17:g.4933889G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933889G>C , CM000679.2:g.4933889G>C GRCh38
NC_000017.10:g.4837184G>C , CM000679.1:g.4837184G>C GRCh37
NG_008767.2:g.6595G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1285G>C (GP1BA) MANE Select ENSP00000329380.5:p.Glu429Gln
ENST00000649830.1:c.-888+453C>G (CHRNE) ENSP00000496907.1:n.-888+453C>G
ENST00000329125.5:c.1285G>C (GP1BA) ENSP00000329380.5:p.Glu429Gln
ENST00000611961.1:c.1272+13G>C (GP1BA) ENSP00000484439.1:n.1272+13G>C
NM_000173.6:c.1285G>C (GP1BA) NP_000164.5:p.Glu429Gln
NM_000173.7:c.1285G>C (GP1BA) MANE Select NP_000164.5:p.Glu429Gln
Search 100 bp 5'
Search 100 bp 3'