Canonical Allele Identifier: CA8314813
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs753947399
ExAC: 17:4836566 T / G
gnomAD v2: 17-4836566-T-G
gnomAD v4: 17-4933271-T-G
MyVariant Identifiers: chr17:g.4836566T>G (hg19) chr17:g.4933271T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933271T>G , CM000679.2:g.4933271T>G GRCh38
NC_000017.10:g.4836566T>G , CM000679.1:g.4836566T>G GRCh37
NC_000017.9:g.4777346T>G NCBI36
NG_008767.2:g.5977T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.667T>G (GP1BA) MANE Select ENSP00000329380.5:p.Trp223Gly
ENST00000649830.1:c.-888+1071A>C (CHRNE) ENSP00000496907.1:n.-888+1071A>C
ENST00000329125.5:c.667T>G (GP1BA) ENSP00000329380.5:p.Trp223Gly
ENST00000611961.1:c.667T>G (GP1BA) ENSP00000484439.1:p.Trp223Gly
NM_000173.6:c.667T>G (GP1BA) NP_000164.5:p.Trp223Gly
NM_000173.7:c.667T>G (GP1BA) MANE Select NP_000164.5:p.Trp223Gly
Search 100 bp 5'
Search 100 bp 3'