Canonical Allele Identifier: CA497677471
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4933096-C-T
MyVariant Identifiers: chr17:g.4836391C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933096C>T , CM000679.2:g.4933096C>T GRCh38
NC_000017.10:g.4836391C>T , CM000679.1:g.4836391C>T GRCh37
NC_000017.9:g.4777171C>T NCBI36
NG_008767.2:g.5802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.492C>T (GP1BA) MANE Select ENSP00000329380.5:p.Pro164=
ENST00000649830.1:c.-888+1246G>A (CHRNE) ENSP00000496907.1:n.-888+1246G>A
ENST00000329125.5:c.492C>T (GP1BA) ENSP00000329380.5:p.Pro164=
ENST00000611961.1:c.492C>T (GP1BA) ENSP00000484439.1:p.Pro164=
NM_000173.6:c.492C>T (GP1BA) NP_000164.5:p.Pro164=
NM_000173.7:c.492C>T (GP1BA) MANE Select NP_000164.5:p.Pro164=
Search 100 bp 5'
Search 100 bp 3'