Canonical Allele Identifier: CA397318282
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4836618C>G (hg19) chr17:g.4933323C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933323C>G , CM000679.2:g.4933323C>G GRCh38
NC_000017.10:g.4836618C>G , CM000679.1:g.4836618C>G GRCh37
NC_000017.9:g.4777398C>G NCBI36
NG_008767.2:g.6029C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.719C>G (GP1BA) MANE Select ENSP00000329380.5:p.Ala240Gly
ENST00000649830.1:c.-888+1019G>C (CHRNE) ENSP00000496907.1:n.-888+1019G>C
ENST00000329125.5:c.719C>G (GP1BA) ENSP00000329380.5:p.Ala240Gly
ENST00000611961.1:c.719C>G (GP1BA) ENSP00000484439.1:p.Ala240Gly
NM_000173.6:c.719C>G (GP1BA) NP_000164.5:p.Ala240Gly
NM_000173.7:c.719C>G (GP1BA) MANE Select NP_000164.5:p.Ala240Gly
Search 100 bp 5'
Search 100 bp 3'